Genetic Mouse Models / SCN1A

SCN1A sodium channel, voltage-gated, type I, alpha subunit

Model Species
Mus musculus
Gene Aliases
RP23-201O18.1, B230332M13, Nav1.1
Reports
5
Associated Human Genes
SCN1A
Models / Rescue Models
17 / 1
Rescue 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.

Reports related to SCN1A (5 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)
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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype Hyperactivity Increased Open field test - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - 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 firing Decreased Whole-cell current clamp P21-24 Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior Social approach No change Three-chamber social approach test - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile - Not reported - - Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype Hyperactivity Increased Open field test - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - 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 firing Decreased Whole-cell current clamp P21-24 Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior Social approach Decreased Three-chamber social approach test - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile - Not reported - - Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype - Not reported - - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - Rubinstein M , et al. (2015)
Neurophysiology - Not reported - - Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior - Not reported - - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile - Not reported - - Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype - Not reported - - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - Rubinstein M , et al. (2015)
Neurophysiology - Not reported - - Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior - Not reported - - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile - Not reported - - Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory - Not reported - - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype - Not reported - - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - Rubinstein M , et al. (2015)
Neurophysiology - Not reported - - Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior - Not reported - - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile - Not reported - - Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory Spatial working memory No change Y-maze test - Rubinstein M , et al. (2015)
Learning & memory Spatial reference memory No change Barnes maze test - Rubinstein M , et al. (2015)
Learning & memory Spatial learning No change Barnes maze test - Rubinstein M , et al. (2015)
Learning & memory Object recognition memory No change Novel object recognition test - Rubinstein M , et al. (2015)
Learning & memory Cued or contextual fear conditioning: memory of context Decreased Fear conditioning test - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype Ataxia Increased General observations - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - Rubinstein M , et al. (2015)
Neurophysiology - Not reported - - Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior - Not reported - - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile Mortality/lethality Increased Survival analysis 3 months Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory - Not reported - - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype - Not reported - - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - Rubinstein M , et al. (2015)
Neurophysiology - Not reported - - Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior - Not reported - - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile Mortality/lethality No change General observations - Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory - Not reported - - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype Ataxia Increased - - Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - Rubinstein M , et al. (2015)
Neurophysiology - Not reported - - Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - Rubinstein M , et al. (2015)
Seizure Seizure threshold Decreased - P21 Rubinstein M , et al. (2015)
Sensory - Not reported - - Rubinstein M , et al. (2015)
Social behavior - Not reported - - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile Mortality/lethality Increased - 1-3 months Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory - Not reported - - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - 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 - Not Reported - - -
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 - Not Reported - - -
Neurophysiology - Not Reported - - -
Repetitive behavior Repetitive digging No change Marble-burying test P34-37 -
Seizure - Not Reported - - -
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: contextual 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 -
Communications - Not Reported - - -
Developmental profile - Not Reported - - -
Emotion Fear response Decreased Fear conditioning test: contextual 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 -
Homeostasis - Not Reported - - -
Immune response - Not Reported - - -
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: contextual P34-37 -
Maternal behavior - Not Reported - - -
Molecular profile - Not Reported - - -

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
Physiological parameters - Not reported - - Ogiwara I , et al. (2007)
Circadian sleep/wake cycle - Not reported - - Ogiwara I , et al. (2007)
Motor phenotype Gait Abnormal - Unreported Ogiwara I , et al. (2007)
Neuroanatomy / ultrastructure / cytoarchitecture Brain size Decreased - Unreported Ogiwara I , et al. (2007)
Neuroanatomy / ultrastructure / cytoarchitecture Brain morphology No change Histology Unreported Ogiwara I , et al. (2007)
Neurophysiology - Not reported - - Ogiwara I , et al. (2007)
Repetitive behavior - Not reported - - 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 - Not reported - - Ogiwara I , et al. (2007)
Social behavior - Not reported - - Ogiwara I , et al. (2007)
Communications - Not reported - - 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 - Not reported - - Ogiwara I , et al. (2007)
Immune response - Not reported - - Ogiwara I , et al. (2007)
Learning & memory - Not reported - - Ogiwara I , et al. (2007)
Maternal behavior - Not reported - - 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
Physiological parameters - Not reported - - Ogiwara I , et al. (2007)
Circadian sleep/wake cycle - Not reported - - Ogiwara I , et al. (2007)
Motor phenotype - Not reported - - Ogiwara I , et al. (2007)
Neuroanatomy / ultrastructure / cytoarchitecture Brain size Decreased - 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 - Not reported - - Ogiwara I , et al. (2007)
Seizure Seizures No change General observations P12-P16 Ogiwara I , et al. (2007)
Sensory - Not reported - - Ogiwara I , et al. (2007)
Social behavior - Not reported - - Ogiwara I , et al. (2007)
Communications - Not reported - - Ogiwara I , et al. (2007)
Developmental profile Mortality/lethality Increased General observations 1-3 months Ogiwara I , et al. (2007)
Emotion - Not reported - - Ogiwara I , et al. (2007)
Immune response - Not reported - - Ogiwara I , et al. (2007)
Learning & memory - Not reported - - Ogiwara I , et al. (2007)
Maternal behavior - Not reported - - Ogiwara I , et al. (2007)
Molecular profile - Not reported - - Ogiwara I , et al. (2007)

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
Physiological parameters - Not reported - - Yu FH , et al. (2006)
Circadian sleep/wake cycle - Not reported - - Yu FH , et al. (2006)
Motor phenotype - Not reported - - 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 firing Abnormal Whole-cell patch clamp Unreported Yu FH , et al. (2006)
Repetitive behavior - Not reported - - 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 - Not reported - - Yu FH , et al. (2006)
Social behavior - Not reported - - Yu FH , et al. (2006)
Communications - Not reported - - 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 - Not reported - - Yu FH , et al. (2006)
Immune response - Not reported - - Yu FH , et al. (2006)
Learning & memory - Not reported - - Yu FH , et al. (2006)
Maternal behavior - Not reported - - 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
Physiological parameters - Not reported - - Han S , et al. (2012)
Physiological parameters - Not reported - - Yu FH , et al. (2006)
Circadian sleep/wake cycle - Not reported - - Han S , et al. (2012)
Circadian sleep/wake cycle - Not reported - - Yu FH , et al. (2006)
Motor phenotype General locomotor activity Increased Open field test 6-8 months Han S , et al. (2012)
Motor phenotype - Not reported - - Yu FH , et al. (2006)
Neuroanatomy / ultrastructure / cytoarchitecture Neuronal number: purkinje cells No change - 10 months Han S , et al. (2012)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - 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 firing 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 - Not reported - - Yu FH , et al. (2006)
Seizure - Not reported - - 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 - 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 - 6-8 months Han S , et al. (2012)
Sensory - Not reported - - 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 - 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 - Not reported - - Yu FH , et al. (2006)
Communications - Not reported - - Han S , et al. (2012)
Communications - Not reported - - Yu FH , et al. (2006)
Developmental profile - Not reported - - 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 - Not reported - - Yu FH , et al. (2006)
Immune response - Not reported - - Han S , et al. (2012)
Immune response - Not reported - - 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 - Not reported - - Yu FH , et al. (2006)
Maternal behavior - Not reported - - Han S , et al. (2012)
Maternal behavior - Not reported - - 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
Physiological parameters - Not reported - - Han S , et al. (2012)
Circadian sleep/wake cycle - Not reported - - Han S , et al. (2012)
Motor phenotype - Not reported - - Han S , et al. (2012)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - 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 - Not reported - - Han S , et al. (2012)
Seizure - Not reported - - Han S , et al. (2012)
Sensory - Not reported - - 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)
Communications - Not reported - - Han S , et al. (2012)
Developmental profile - Not reported - - Han S , et al. (2012)
Emotion - Not reported - - Han S , et al. (2012)
Immune response - Not reported - - 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 - Not reported - - Han S , et al. (2012)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Hawkins NA , et al. (2010)
Circadian sleep/wake cycle - Not reported - - Hawkins NA , et al. (2010)
Motor phenotype - Not reported - - Hawkins NA , et al. (2010)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - Hawkins NA , et al. (2010)
Neurophysiology - Not reported - - Hawkins NA , et al. (2010)
Repetitive behavior - Not reported - - 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 - Not reported - - Hawkins NA , et al. (2010)
Social behavior - Not reported - - Hawkins NA , et al. (2010)
Communications - Not reported - - Hawkins NA , et al. (2010)
Developmental profile Mortality/lethality Increased General observations P24 Hawkins NA , et al. (2010)
Emotion - Not reported - - Hawkins NA , et al. (2010)
Immune response - Not reported - - Hawkins NA , et al. (2010)
Learning & memory - Not reported - - Hawkins NA , et al. (2010)
Maternal behavior - Not reported - - Hawkins NA , et al. (2010)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Han S , et al. (2012)
Circadian sleep/wake cycle - Not reported - - 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 - Not reported - - Han S , et al. (2012)
Neurophysiology - Not reported - - Han S , et al. (2012)
Repetitive behavior Circling Increased Open field test 3-5 months Han S , et al. (2012)
Seizure - Not reported - - Han S , et al. (2012)
Sensory - Not reported - - 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)
Communications - Not reported - - Han S , et al. (2012)
Developmental profile - Not reported - - 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 - Not reported - - 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 - Not reported - - Han S , et al. (2012)
Molecular profile - Not reported - - 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
Physiological parameters - Not reported - - Rubinstein M , et al. (2015)
Circadian sleep/wake cycle - Not reported - - Rubinstein M , et al. (2015)
Motor phenotype Hyperactivity No change Open field test Adult Rubinstein M , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture - Not reported - - 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 firing Decreased Whole-cell current clamp P21-24 Rubinstein M , et al. (2015)
Repetitive behavior - Not reported - - 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 - Not reported - - Rubinstein M , et al. (2015)
Social behavior Social approach Decreased Three-chamber social approach test - Rubinstein M , et al. (2015)
Communications - Not reported - - Rubinstein M , et al. (2015)
Developmental profile - Not reported - - Rubinstein M , et al. (2015)
Emotion - Not reported - - Rubinstein M , et al. (2015)
Immune response - Not reported - - Rubinstein M , et al. (2015)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test - Rubinstein M , et al. (2015)
Maternal behavior - Not reported - - Rubinstein M , et al. (2015)
Molecular profile - Not reported - - Rubinstein M , et al. (2015)
Other SCN1A Rescue Models(1 Models)
M_SCN1A_6_KO_HT 1 Genetic Pharmaceutical Clonazepam
CNVs associated with SCN1A(1 Models)
2q24.3 16 Deletion 28  /  100
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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