Genetic Mouse Models / STXBP1

STXBP1 syntaxin binding protein 1

Model Species
Mus musculus
Gene Aliases
AI317162, AI326233, MMS10-G, Ms10g, Munc-18a, Munc18-1, N-sec1, Rb-sec1, Sxtbp1, Unc18-1, Unc18h, nsec1
Reports
1
Associated Human Genes
STXBP1
Models / Rescue Models
6 / 1
Rescue 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).

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
Physiological parameters NA Not reported NA NA Kovacevic J , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Kovacevic J , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Kovacevic J , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Kovacevic J , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Kovacevic J , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Kovacevic J , et al. (2018)
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)
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)
9q34.11 13 Deletion-Duplication 23  /  45
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