STXBP1 syntaxin binding protein 1
Model Species
Mus musculusGene Aliases
AI317162, AI326233, MMS10-G, Ms10g, Munc-18a, Munc18-1, N-sec1, Rb-sec1, Sxtbp1, Unc18-1, Unc18h, nsec1Models / Rescue Models
6 / 1Rescue Model
-Model Summary
Stxbp1 heterozygous mice with different genomic backgrounds recapitulate the seizure/spasm phenotype observed in humans that were rescued by the antiepileptic drug levetiracetam. Heterozygous conditional knockout mice with selective Stxbp1 deficiency in GABAergic neurons, showed increased early postnatal mortality, and seizures. Stxbp1 heterozygous mice showed impaired cognitive performance, hyperactivity and anxiety-like behavior, without altered social behavior (Kovacevic et al., 2018).
External Links
Reports related to STXBP1 (1 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. | Kovacevic J , et al. (2018) |
Show all Construct Details
Show all Phenotypic Profiles
M_STXBP1_1_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
The Stxbp1^cre/+ line was created using Cre-loxP-mediated recombination in the germ line. Cre-deleter mice were crossed with Stxbp1^lox/+ mutants, which were generated on a C57BL/6J background and bred further on C57BL/6J background, generating a Stxbp1 heterozygous mouse line without flanking gene variations. .
Allele Type: Knockout
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 | Locomotor activity in diurnal cycle: light phase | Decreased | Home cage behavior | 1-3 months | Kovacevic J , et al. (2018) |
| Circadian sleep/wake cycle | Adaptation to dark phase | Increased | Home cage behavior | 1-3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | Motor learning | No change | Accelerating rotarod test | 3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | Grip strength | No change | Grip strength test | 3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 1-3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Elevated plus maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neurophysiology | Neuronal activation | No change | Immunohistochemistry | Unreported | Kovacevic J , et al. (2018) |
| Neurophysiology | Neuronal activation | Increased | Immunohistochemistry | Unreported | Kovacevic J , et al. (2018) |
| Repetitive behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Seizure | Seizures | Increased | Observation of seizures | 1-3 months | Kovacevic J , et al. (2018) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Increased | Electroencephalogram (eeg) | 3 months | Kovacevic J , et al. (2018) |
| Sensory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Social behavior | Social memory | No change | Three-chamber social approach test | 1-3 months | Kovacevic J , et al. (2018) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 1-3 months | Kovacevic J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | Adult | Kovacevic J , et al. (2018) |
| Developmental profile | Mortality/lethality | No change | General observations | 2 months | Kovacevic J , et al. (2018) |
| Developmental profile | General characteristics | No change | General observations | Adult | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Shelter test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Open field test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | No change | Novelty-induced hypophagia | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 1-3 months | Kovacevic J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial working memory | No change | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial reference memory | No change | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial learning | No change | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Reward reinforced choice behavior | No change | Five-choice serial reaction time test (5-csrtt) | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Reward reinforced choice behavior | No change | Cognitive wall test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: active avoidance | No change | Active avoidance test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Cognitive flexibility | Decreased | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Cognitive flexibility | No change | Cognitive wall test | 1-3 months | Kovacevic J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
M_STXBP1_2_CKO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional heterozygous deletion of exons 2-6 (most likely, article is not clear)of the Stxbp1 gene using Gad2-cre in gabaergic neurons
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 | Kovacevic J , et al. (2018) |
| Motor phenotype | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neurophysiology | Neuronal activation | Increased | Immunohistochemistry | P12, p19 | Kovacevic J , et al. (2018) |
| Repetitive behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Increased | Electroencephalogram (eeg) | 3 months | Kovacevic J , et al. (2018) |
| Sensory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Social behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Developmental profile | Mortality/lethality | Increased | Kaplan-meier survival curve | 2, 4, 6 weeks | Kovacevic J , et al. (2018) |
| Emotion | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Learning & memory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
M_STXBP1_3_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Congenic C57BL/6J Stxbp1 mice were originally generated by deleting exons 26, preventing translation after amino acid 14, in the embryonic stem cells derived from a 129S1/SvImJ strain and backcrossed to C57BL/6J mice for over 40 generations. Three genes (Card9, Rapgef1 and Dolpp1) with passenger mutations from 129SvJ genetic background were detected in the flanking genes region in congenic C57BL/6J Stxbp1 mice.
Allele Type: Knockout
Strain of Origin: 129S1/SvImJ
Genetic Background: C57BL/6J
Es cell line: 129S1/SvImJ
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Locomotor activity in diurnal cycle: light phase | Decreased | Home cage behavior | 1-3 months | Kovacevic J , et al. (2018) |
| Circadian sleep/wake cycle | Adaptation to dark phase | Increased | Home cage behavior | 1-3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | Motor learning | No change | Accelerating rotarod test | 3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | Grip strength | No change | Grip strength test | 3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 1-3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Elevated plus maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neurophysiology | Neuronal activation | No change | Immunohistochemistry | Unreported | Kovacevic J , et al. (2018) |
| Neurophysiology | Neuronal activation | Increased | Immunohistochemistry | Unreported | Kovacevic J , et al. (2018) |
| Repetitive behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Seizure | Seizures | Increased | Observation of seizures | 1-3 months | Kovacevic J , et al. (2018) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Increased | Electroencephalogram (eeg) | 3 months | Kovacevic J , et al. (2018) |
| Sensory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Social behavior | Social memory | No change | Three-chamber social approach test | 1-3 months | Kovacevic J , et al. (2018) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 1-3 months | Kovacevic J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | Adult | Kovacevic J , et al. (2018) |
| Developmental profile | Mortality/lethality | No change | General observations | 2 months | Kovacevic J , et al. (2018) |
| Developmental profile | General characteristics | No change | General observations | Adult | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Shelter test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Open field test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | No change | Novelty-induced hypophagia | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 1-3 months | Kovacevic J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial working memory | Decreased | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial reference memory | Increased | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial reference memory | No change | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial learning | Decreased | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Reward reinforced choice behavior | No change | Five-choice serial reaction time test (5-csrtt) | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Reward reinforced choice behavior | No change | Cognitive wall test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: active avoidance | Increased | Active avoidance test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Cognitive flexibility | Decreased | Barnes maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Cognitive flexibility | Increased | Cognitive wall test | 1-3 months | Kovacevic J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
M_STXBP1_3_KO_HT_LEVETIRACETAM-1
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Mutation:
Congenic C57BL/6J Stxbp1 heterozygous mice were treated with the antiepileptic drug, levetiracetam. One day after saline injection, mice were injected with levetiracetam (50 mg/kg, i.p.) for one day.
Allele Type: Knockout
Strain of Origin: 129S1/SvImJ
Genetic Background: C57BL/6J
Es cell line: 129S1/SvImJ
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Motor phenotype | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neurophysiology | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Repetitive behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Ameliorated | Electroencephalogram (eeg) | 1-3 months | Kovacevic J , et al. (2018) |
| Sensory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Social behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Developmental profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Emotion | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Learning & memory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
M_STXBP1_3_KO_HT_LEVETIRACETAM-2
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Mutation:
Congenic C57BL/6J Stxbp1 heterozygous mice were treated with the antiepileptic drug, levetiracetam. One day after saline injection, mice were injected with levetiracetam (50 mg/kg, i.p.) and treatment continued once daily for 5 days.
Allele Type: Knockout
Strain of Origin: 129S1/SvImJ
Genetic Background: C57BL/6J
Es cell line: 129S1/SvImJ
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Motor phenotype | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neurophysiology | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Repetitive behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Ameliorated | Electroencephalogram (eeg) | 1-3 months | Kovacevic J , et al. (2018) |
| Sensory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Social behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Developmental profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Emotion | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Learning & memory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
M_STXBP1_4_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
The reverse 129Sv Stxbp1 heterozygous line was created by mating male congenic C57BL/6J Stxbp1 heterozygous mice with females of the inbred 129S1/SvImJ strain for three generations.
Allele Type: Knockout
Strain of Origin: 129S1/SvImJ
Genetic Background: 129S1/SvImJ
Es cell line: 129S1/SvImJ
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Locomotor activity in diurnal cycle: light phase | Decreased | Home cage behavior | 1-3 months | Kovacevic J , et al. (2018) |
| Circadian sleep/wake cycle | Adaptation to dark phase | Increased | Home cage behavior | 1-3 months | Kovacevic J , et al. (2018) |
| Motor phenotype | Grip strength | No change | Grip strength test | 3 months | Kovacevic J , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Neurophysiology | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Repetitive behavior | Vertical jumping or back flipping | Increased | Home cage behavior | 1-3 months | Kovacevic J , et al. (2018) |
| Seizure | Seizures | Increased | Observation of seizures | 1-3 months | Kovacevic J , et al. (2018) |
| Sensory | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Social behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | Adult | Kovacevic J , et al. (2018) |
| Developmental profile | Mortality/lethality | No change | General observations | 2 months | Kovacevic J , et al. (2018) |
| Developmental profile | General characteristics | No change | General observations | Adult | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Open field test | 1-3 months | Kovacevic J , et al. (2018) |
| Emotion | Anxiety | Increased | Novelty-induced hypophagia | 1-3 months | Kovacevic J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial working memory | No change | Morris water maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial reference memory | No change | Morris water maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Spatial learning | No change | Morris water maze test | 1-3 months | Kovacevic J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: active avoidance | No change | Active avoidance test | 1-3 months | Kovacevic J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Kovacevic J , et al. (2018) |
Other STXBP1 Rescue Models(1 Models)
| M_STXBP1_3_KO_HT | 2 | Genetic | Pharmaceutical | Levetiracetam |
CNVs associated with STXBP1(1 Models)
Sort By:
| 9q34.11 | 16 | Deletion-Duplication | 26 / 48 |