SCN1A sodium channel, voltage-gated, type I, alpha subunit
Model Species
Mus musculusGene Aliases
RP23-201O18.1, B230332M13, Nav1.1Models / Rescue Models
19 / 2Rescue Model
-Model Summary
Scn1a plays critical roles in the spike output from PV interneurons and, furthermore, that the specifically altered function of these inhibitory circuits may contribute to epileptic seizures.
External Links
Reports related to SCN1A (7 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Additional | Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. | Yu FH , et al. (2006) |
| 2 | Primary | Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mu... | Ogiwara I , et al. (2007) |
| 3 | Additional | Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. | Hawkins NA , et al. (2010) |
| 4 | Additional | Autistic-like behaviour in Scn1a mice and rescue by enhanced GABA-mediated neurotransmission. | Han S , et al. (2012) |
| 5 | Additional | Dissecting the phenotypes of Dravet syndrome by gene deletion. | Rubinstein M , et al. (2015) |
| 6 | Additional | Adolescent Behavioral Abnormalities in a Scn1a +/- Mouse Model of Dravet Syndrome </title> | () |
| 7 | Additional | Tau Reduction Prevents Key Features of Autism in Mouse Models | Tai C et al. (2020) |
Show all Construct Details
Show all Phenotypic Profiles
M_SCN1A_10_CKO_HT_SSTN
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional heterozygous deletion of exon 25 of Scn1a using SST-cre in somatostatin expressing interneurons. Authors assess Martinotti cells
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | Hyperactivity | Increased | Open field test | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | Spontaneous post synaptic events: inhibitory currents | No change | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Spontaneous post synaptic events: excitatory currents | No change | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Intrinsic membrane properties | Increased | Whole-cell current clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Action potential property: firing rate | Decreased | Whole-cell current clamp | P21-24 | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | No change | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | 5 weeks | Rubinstein M , et al. (2015) |
| Seizure | Absence seizures | Increased | Electroencephalogram (eeg) | P21-p35 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | Social approach | No change | Three-chamber social approach test | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_11_CKO_HT_PVALBN_SSTN
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional hetereozygous deletion of exon 21 of Scn1a gene using Pvalb-Cre and SST-cre in neurons expressing both SST and Pvalb, some of these neurons are called oriens lacunosum-moleculare cells in the hippocampus they regulate the action potential firing of CA1 pyramidal cells
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | Hyperactivity | Increased | Open field test | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | Synaptic transmission: excitatory | Decreased | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Intrinsic membrane properties | Increased | Whole-cell current clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Decay kinetics of evoked post synaptic currents | Decreased | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Action potential property: firing rate | Decreased | Whole-cell current clamp | P21-24 | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | 5 weeks | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_12_CKO_HT_PVALBN
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional hetereozygous deletion of exon 21 of the Scn1a gene using Pvalb-cre in parvalbumin expressing interneurons
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Electroencephalogram (eeg) | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | 5 weeks | Rubinstein M , et al. (2015) |
| Seizure | Absence seizures | Increased | Electroencephalogram (eeg) | P22-p26 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_13_CKO_HT_SSTN
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional hetereozygous deletion of exon 21 of the Scn1a gene using SST-cre in somatostatin expressing interneurons
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Electroencephalogram (eeg) | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | No change | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | 5 weeks | Rubinstein M , et al. (2015) |
| Seizure | Absence seizures | Increased | Electroencephalogram (eeg) | P21-p35 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_14_CKO_HT_PVALBN_SSTN
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional heterozygous deletion of exon 21 of Scn1a gene using Pvalb-cre (with homozygous expression) and SST-cre (with heterozygous expression) in parvalbumin and somatostatin expressing interneurons
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Electroencephalogram (eeg) | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | 5 weeks | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Seizure | Absence seizures | Increased | Electroencephalogram (eeg) | P22-p26 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Spatial working memory | No change | Y-maze test | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Spatial reference memory | No change | Barnes maze test | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Spatial learning | No change | Barnes maze test | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_15_CKO_HM-PVALBN
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 21 of the Scn1a gene using Pvalb-cre, in parvalbumin expressing interneurons
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | Ataxia | Increased | General observations | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | Increased | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizures | Increased | Electroencephalogram (eeg) | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | Mortality/lethality | Increased | Survival analysis | 3 months | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_16_CKO_HM_SSTN
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 21 of the Scn1a gene using SST-cre, in somatostatin expressing interneurons
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | Mortality/lethality | No change | General observations | NA | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_17_CKO_HM_PVALBN_SSTN
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 21 of the Scn1a gene using Pvalb-Cre and SSTN-cre in neurons expressing both SST and Pvalb, some of these neurons are called oriens lacunosum-moleculare cells in the hippocampus they regulate the action potential firing of CA1 pyramidal cells
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | Ataxia | Increased | NA | NA | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | NA | P21 | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | Mortality/lethality | Increased | NA | 1-3 months | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
M_SCN1A_18_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Mice with targeted deletion of Scn1a exon 1 (Scn1a^tm1Kea) during adolescence were generated by replacing exon1 with a loxP-flanked PGKneo cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129S6/SvEvTac
Genetic Background: 129S6/SvEvTac*C57BL/6J
Es cell line: -
Model Source: Jackson Laboratory (stock 37107-JAX; Bar Harbor, MA, USA)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | () |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | P34-37 | () |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Barnes maze test | P34-37 | () |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | () |
| Neurophysiology | NA | Not reported | NA | NA | () |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | P34-37 | () |
| Seizure | NA | Not reported | NA | NA | () |
| Sensory | Startle response: acoustic stimulus | Decreased | Acoustic startle reflex test | P34-37 | () |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | P34-37 | () |
| Sensory | Pain or nociception | No change | Fear conditioning test | P34-37 | () |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | P34-37 | () |
| Social behavior | Social interaction | No change | Reciprocal social interaction test | P34-37 | () |
| Social behavior | Social approach | No change | Three-chamber social approach test | P34-37 | () |
| Physiological parameters | NA | Not reported | NA | NA | () |
| Communications | NA | Not reported | NA | NA | () |
| Developmental profile | NA | Not reported | NA | NA | () |
| Emotion | Fear response | Decreased | Fear conditioning test | P34-37 | () |
| Emotion | Exploratory activity: habituation | No change | Open field test | P34-37 | () |
| Emotion | Anxiety | Increased | Open field test | P34-37 | () |
| Emotion | Anxiety | No change | Elevated plus maze test | P34-37 | () |
| Immune response | NA | Not reported | NA | NA | () |
| Learning & memory | Spatial working memory | No change | Barnes maze test | P34-37 | () |
| Learning & memory | Spatial reference memory | Decreased | Barnes maze test | P34-37 | () |
| Learning & memory | Object recognition memory | Increased | Novel object recognition test | P34-37 | () |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | P34-37 | () |
| Maternal behavior | NA | Not reported | NA | NA | () |
| Molecular profile | NA | Not reported | NA | NA | () |
M_SCN1A_1_R1407X_KI_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Knock-in of a premature stop codon, R1407X in exon 21 of the Scna1 gene.
Allele Type: Targeted (Knock In)
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6/129(~75%/25%)
Es cell line: 5D8
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Motor phenotype | Gait | Abnormal | NA | Unreported | Ogiwara I , et al. (2007) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | NA | Unreported | Ogiwara I , et al. (2007) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Histology | Unreported | Ogiwara I , et al. (2007) |
| Neurophysiology | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Repetitive behavior | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Seizure | Seizures | Increased | General observations | P12-p16 | Ogiwara I , et al. (2007) |
| Seizure | Seizures | Increased | Electrocorticogram (ecog) | P14-p16 | Ogiwara I , et al. (2007) |
| Sensory | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Social behavior | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Physiological parameters | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Communications | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Developmental profile | Size/growth | Decreased | General observations | P14-p15 | Ogiwara I , et al. (2007) |
| Developmental profile | Mortality/lethality | Increased | General observations | 3 weeks | Ogiwara I , et al. (2007) |
| Developmental profile | General characteristics | No change | General observations | Unreported | Ogiwara I , et al. (2007) |
| Emotion | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Immune response | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Learning & memory | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Maternal behavior | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Molecular profile | Protein expression level evidence | No change | Western blot | Unreported | Ogiwara I , et al. (2007) |
| Molecular profile | Gene expression | Decreased | Northern blot | Unreported | Ogiwara I , et al. (2007) |
M_SCN1A_2_R1407X_KI_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Knock-in of a premature stop codon, R1407X in exon 21 of the Scna1 gene.
Allele Type: Targeted (Knock In)
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6/129(~75%/25%)
Es cell line: 5D8
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Motor phenotype | General locomotor activity | No change | Open field test | 1.4, 1.7 months | Tai C et al. (2020) |
| Motor phenotype | General locomotor activity | Increased | Open field test | 2.5, 3.5, 6, 10 months | Tai C et al. (2020) |
| Motor phenotype | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Hippocampal morphology | Increased | Histology | 9-10 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | No change | Measurement of tissue weight | 0.5-1.4 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Increased | Measurement of tissue weight | 2.6-9.1 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Increased | Measurement of tissue volume | 9-10 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Increased | Measurement of tissue volume | 9-10 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Measurement of tissue density | 2.6 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Measurement of tissue density | 1.5, 3.4 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | NA | Unreported | Ogiwara I , et al. (2007) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Histology | Unreported | Ogiwara I , et al. (2007) |
| Neurophysiology | Synaptic transmission | No change | Whole-cell patch clamp | 3-4 weeks | Ogiwara I , et al. (2007) |
| Neurophysiology | Synaptic transmission | Decreased | Whole-cell patch clamp | 3-4 weeks | Ogiwara I , et al. (2007) |
| Repetitive behavior | Self grooming: perseveration | No change | Novel cage test | 1-7 months | Tai C et al. (2020) |
| Repetitive behavior | Self grooming: perseveration | Increased | Novel cage test | 4-7 months, 6 months | Tai C et al. (2020) |
| Repetitive behavior | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Seizure | Seizures | No change | General observations | P12-p16 | Ogiwara I , et al. (2007) |
| Sensory | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Social behavior | Social scent marking or recognition | Decreased | Olfactory habituation-dishabituation test | 4-7 months | Tai C et al. (2020) |
| Social behavior | Social interaction | Decreased | Reciprocal social interaction test | 4-7 months | Tai C et al. (2020) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 2-7 months | Tai C et al. (2020) |
| Social behavior | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Physiological parameters | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Communications | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Developmental profile | Size/growth | No change | Body weight measurement | 0.5-4.5 months | Tai C et al. (2020) |
| Developmental profile | Mortality/lethality | Increased | General observations | 1-3 months | Ogiwara I , et al. (2007) |
| Emotion | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Immune response | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Learning & memory | Spatial working memory | No change | Water t-maze test | 4-7 months | Tai C et al. (2020) |
| Learning & memory | Olfactory learning and memory | No change | Olfactory habituation-dishabituation test | 4-7 months | Tai C et al. (2020) |
| Learning & memory | Cognitive flexibility | Decreased | Water t-maze test | 4-7 months | Tai C et al. (2020) |
| Learning & memory | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Maternal behavior | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
| Molecular profile | Signaling: pi3k/akt pathway | Increased | Immunohistochemistry | 1 month | Tai C et al. (2020) |
| Molecular profile | Signaling: pi3k/akt pathway | Increased | Western blot | P10-10 months | Tai C et al. (2020) |
| Molecular profile | Signaling: mtor pathway | Increased | Immunohistochemistry | 1 month | Tai C et al. (2020) |
| Molecular profile | Signaling: mtor pathway | Increased | Western blot | P10-10 months | Tai C et al. (2020) |
| Molecular profile | Protein phosphorylation | Increased | Western blot | 2-3 months | Tai C et al. (2020) |
| Molecular profile | NA | Not reported | NA | NA | Ogiwara I , et al. (2007) |
M_SCN1A_2_R1407X_KI_HT_TAU-DEF-1
Model Type: RESCUE-Genetic
Model Genotype: Heterozygous
Mutation:
Scn1aRX/+ mice (M_SCN1A_2_R1407X_KI_HT) and Scn1a+/+ controls were crossed onto heterozygous MAPT (rescue) backgrounds (Gheyara et al., 2014) that impart 50% brain tau levels compared to Mapt wildtype controls.
Allele Type: Targeted (Knock In)
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6/129(~75%/25%)
Es cell line: 5D8
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Hippocampal morphology | Restored | Histology | 9-10 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Restored | Measurement of tissue volume | 9-10 months | Tai C et al. (2020) |
| Repetitive behavior | Self grooming: perseveration | Restored | Novel cage test | 1-7 months | Tai C et al. (2020) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 2-7 months | Tai C et al. (2020) |
| Learning & memory | Spatial working memory | No adverse effect | Water t-maze test | 4-7 months | Tai C et al. (2020) |
| Learning & memory | Cognitive flexibility | Restored | Water t-maze test | 4-7 months | Tai C et al. (2020) |
| Molecular profile | Signaling: pi3k/akt pathway | Restored | Western blot | P10-10 months | Tai C et al. (2020) |
| Molecular profile | Signaling: mtor pathway | Restored | Western blot | P10-10 months | Tai C et al. (2020) |
M_SCN1A_2_R1407X_KI_HT_TAU-DEF-2
Model Type: RESCUE-Genetic
Model Genotype: Heterozygous
Mutation:
Scn1aRX/+ mice (M_SCN1A_2_R1407X_KI_HT) and Scn1a+/+ controls were crossed onto null MAPT (rescue) backgrounds (Gheyara et al., 2014) that impart 0% brain tau levels compared to Mapt wildtype controls.
Allele Type: Targeted (Knock In)
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6/129(~75%/25%)
Es cell line: 5D8
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Hippocampal morphology | Restored | Histology | 9-10 months | Tai C et al. (2020) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Restored | Measurement of tissue volume | 9-10 months | Tai C et al. (2020) |
| Repetitive behavior | Self grooming: perseveration | Restored | Novel cage test | 1-7 months | Tai C et al. (2020) |
| Social behavior | Social scent marking or recognition | Restored | Olfactory habituation-dishabituation test | 4-7 months | Tai C et al. (2020) |
| Social behavior | Social interaction | Restored | Reciprocal social interaction test | 4-7 months | Tai C et al. (2020) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 2-7 months | Tai C et al. (2020) |
| Learning & memory | Spatial working memory | No adverse effect | Water t-maze test | 4-7 months | Tai C et al. (2020) |
| Learning & memory | Olfactory learning and memory | No adverse effect | Olfactory habituation-dishabituation test | 4-7 months | Tai C et al. (2020) |
| Learning & memory | Cognitive flexibility | Restored | Water t-maze test | 4-7 months | Tai C et al. (2020) |
| Molecular profile | Signaling: pi3k/akt pathway | Restored | Western blot | P10-10 months | Tai C et al. (2020) |
| Molecular profile | Signaling: mtor pathway | Restored | Western blot | P10-10 months | Tai C et al. (2020) |
M_SCN1A_5_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Targeted replacement of the last coding exon of Scn1a which encodes domain IV downstream of the S3 segment and the cytoplasmic tail.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/SvJ
Genetic Background: 129/SvJ x C57BL/6
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Motor phenotype | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: purkinje cells | No change | Immunohistochemistry | Unreported | Yu FH , et al. (2006) |
| Neurophysiology | Ion influx and permeability: sodium | No change | Whole-cell patch clamp | Unreported | Yu FH , et al. (2006) |
| Neurophysiology | Ion influx and permeability: sodium | Decreased | Whole-cell patch clamp | Unreported | Yu FH , et al. (2006) |
| Neurophysiology | Action potential property: firing rate | Abnormal | Whole-cell patch clamp | Unreported | Yu FH , et al. (2006) |
| Repetitive behavior | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Seizure | Seizures | Increased | General observations | P15 | Yu FH , et al. (2006) |
| Seizure | Seizures | Increased | General observations | P9 | Yu FH , et al. (2006) |
| Sensory | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Social behavior | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Physiological parameters | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Communications | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Developmental profile | Size/growth | Decreased | General observations | P15 | Yu FH , et al. (2006) |
| Developmental profile | Mortality/lethality | Increased | General observations | P15 | Yu FH , et al. (2006) |
| Developmental profile | General characteristics | No change | General observations | P15 | Yu FH , et al. (2006) |
| Emotion | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Immune response | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Learning & memory | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Maternal behavior | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Molecular profile | Protein expression level evidence | No change | Immunohistochemistry | Unreported | Yu FH , et al. (2006) |
| Molecular profile | Protein expression level evidence | Increased | Immunohistochemistry | Unreported | Yu FH , et al. (2006) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | Unreported | Yu FH , et al. (2006) |
M_SCN1A_6_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Targeted replacement of the last coding exon of Scn1a which encodes domain IV downstream of the S3 segment and the cytoplasmic tail.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/SvJ
Genetic Background: 129/SvJ x C57BL/6
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Motor phenotype | General locomotor activity | Increased | Open field test | 6-8 months | Han S , et al. (2012) |
| Motor phenotype | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: purkinje cells | No change | NA | 10 months | Han S , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Neurophysiology | Synaptic transmission: excitatory | Increased | Whole-cell patch clamp | Unreported | Han S , et al. (2012) |
| Neurophysiology | Miniature post synaptic currents: inhibitory | No change | Whole-cell patch clamp | Unreported | Han S , et al. (2012) |
| Neurophysiology | Miniature post synaptic currents: inhibitory | Decreased | Whole-cell patch clamp | Unreported | Han S , et al. (2012) |
| Neurophysiology | Ion influx and permeability: sodium | No change | Whole-cell patch clamp | Unreported | Yu FH , et al. (2006) |
| Neurophysiology | Ion influx and permeability: sodium | Decreased | Whole-cell patch clamp | Unreported | Yu FH , et al. (2006) |
| Neurophysiology | Action potential property: firing rate | Abnormal | Whole-cell patch clamp | Unreported | Yu FH , et al. (2006) |
| Repetitive behavior | Self grooming: perseveration | Increased | Open field test | 6-8 months | Han S , et al. (2012) |
| Repetitive behavior | Circling | Increased | Open field test | 6-8 months | Han S , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Seizure | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Seizure | Seizures | Increased | Electroencephalogram (eeg) | 4 months | Yu FH , et al. (2006) |
| Seizure | Seizures | Increased | General observations | P21-27 | Yu FH , et al. (2006) |
| Sensory | Olfaction | No change | NA | 6-8 months | Han S , et al. (2012) |
| Sensory | Olfaction | No change | Three-chamber social approach test | 6-8 months | Han S , et al. (2012) |
| Sensory | Olfaction | Abnormal | NA | 6-8 months | Han S , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Social behavior | Social withdrawal | Increased | Reciprocal social interaction test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Social scent marking or recognition | Decreased | Three-chamber social approach test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Social interaction | Decreased | Three-chamber social approach test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Social interaction | Decreased | Reciprocal social interaction test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Social interaction | Decreased | Y-maze test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Social interaction | Decreased | Three-chamber social approach test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Social interaction | Decreased | Reciprocal social interaction test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Nest building behavior | Decreased | NA | 6-8 months | Han S , et al. (2012) |
| Social behavior | Aggression | Decreased | Reciprocal social interaction test | 6-8 months | Han S , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Physiological parameters | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Communications | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Developmental profile | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Developmental profile | Mortality/lethality | Increased | General observations | P21-27 | Yu FH , et al. (2006) |
| Emotion | Anxiety | Increased | Open field test | 6-8 months | Han S , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6-8 months | Han S , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Immune response | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Learning & memory | Spatial reference memory | Decreased | Barnes maze test | 6-8 months | Han S , et al. (2012) |
| Learning & memory | Spatial learning | Decreased | Barnes maze test | 6-8 months | Han S , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | 6-8 months | Han S , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Maternal behavior | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Yu FH , et al. (2006) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | 10 months | Han S , et al. (2012) |
| Molecular profile | Protein expression level evidence | Increased | Immunohistochemistry | Unreported | Yu FH , et al. (2006) |
M_SCN1A_6_KO_HT_CLONAZEPAM
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Mutation:
Targeted replacement of the last coding exon of Scn1a, which encodes domain IV downstream of the S3 segment and the cytoplasmic tail treated with benzodiazepine clonazepam intraperitoneally with 0.0625 mg/kg.
Allele Type: Rescue
Strain of Origin: 129/SvJ
Genetic Background: 129/SvJ x C57BL/6
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Motor phenotype | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Neurophysiology | Synaptic transmission: excitatory | Restored | Whole-cell patch clamp | P21-25 | Han S , et al. (2012) |
| Neurophysiology | Miniature post synaptic currents: inhibitory | Restored | Whole-cell patch clamp | P21-25 | Han S , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Social behavior | Social interaction | Restored | Three-chamber social approach test | 6-8 months | Han S , et al. (2012) |
| Social behavior | Social interaction | Restored | Reciprocal social interaction test | 6-8 months | Han S , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Restored | Fear conditioning test | 6-8 months | Han S , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Han S , et al. (2012) |
M_SCN1A_7_R1648H_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Knock-in of a mutation R1648H into Scna1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: 129S6.C57BL/6J
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Motor phenotype | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Neurophysiology | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Repetitive behavior | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Seizure | Seizures | No change | Observation of seizures | Unreported | Hawkins NA , et al. (2010) |
| Seizure | Seizures | Decreased | Maximal electroconvulsive seizure threshold test | Unreported | Hawkins NA , et al. (2010) |
| Sensory | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Social behavior | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Physiological parameters | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Communications | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Developmental profile | Mortality/lethality | Increased | General observations | P24 | Hawkins NA , et al. (2010) |
| Emotion | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Immune response | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Learning & memory | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
| Molecular profile | NA | Not reported | NA | NA | Hawkins NA , et al. (2010) |
M_SCN1A_8_CKO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional deletion of exon 25 of the Scn1a gene which encodes domain IV downstream of the S3 segment and the cytoplasmic tail using DlxI12b-Cre in a majority of gabaergic neurons of the forebrain
Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: Not Specified
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Motor phenotype | General locomotor activity | Increased | Open field test | 3-5 months | Han S , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Repetitive behavior | Circling | Increased | Open field test | 3-5 months | Han S , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Social behavior | Social interaction | Decreased | Three-chamber social approach test | 3-5 months | Han S , et al. (2012) |
| Social behavior | Social interaction | Decreased | Reciprocal social interaction test | 3-5 months | Han S , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Emotion | Anxiety | Increased | Open field test | 3-5 months | Han S , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 3-5 months | Han S , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | 3-5 months | Han S , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Han S , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Han S , et al. (2012) |
M_SCN1A_9_CKO_HT_PVALBN
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional deletion of exon 25 of the Scn1a gene using Pvalb-Cre in parvalbumin expressing interneurons. Authors state that this model has Scn1a haploinsufficiency only in neurons that have a very high expression of Pvalb
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Motor phenotype | Hyperactivity | No change | Open field test | Adult | Rubinstein M , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Neurophysiology | Spontaneous post synaptic events: inhibitory currents | Decreased | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Spontaneous post synaptic events: excitatory currents | Increased | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | No change | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | No change | Whole-cell patch clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Intrinsic membrane properties | Increased | Whole-cell current clamp | P21-24 | Rubinstein M , et al. (2015) |
| Neurophysiology | Action potential property: firing rate | Decreased | Whole-cell current clamp | P21-24 | Rubinstein M , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | P22-p26 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | No change | Observation of thermally induced seizures | P21 | Rubinstein M , et al. (2015) |
| Seizure | Seizure threshold | Decreased | Observation of thermally induced seizures | 5 weeks | Rubinstein M , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | NA | Rubinstein M , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Developmental profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Emotion | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | NA | Rubinstein M , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
| Molecular profile | NA | Not reported | NA | NA | Rubinstein M , et al. (2015) |
Other SCN1A Rescue Models(2 Models)
| M_SCN1A_6_KO_HT | 1 | Genetic | Pharmaceutical | Clonazepam |
| M_SCN1A_2_R1407X_KI_HT | 2 | Genetic | Genetic | Tau deficiency |
CNVs associated with SCN1A(1 Models)
Sort By:
| 2q24.3 | 19 | Deletion | 31 / 103 |