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Phenotypes Associated with This Genotype
Genotype
MGI:2177574
Allelic
Composition
Gad2tm1Bae/Gad2tm1Bae
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gad2tm1Bae mutation (2 available); any Gad2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• less than 70% survive to 7 months of age

behavior/neurological
• develop spontaneous seizures as early as 12 weeks of age, however locomotion appears normal as homozygotes are not stiff, hyperactive, or ataxic and do not have tremors
• spontaneous seizures are rare and usually occur less than once per week
• Background Sensitivity: fear and/or mild stress occasionally induces seizures; stress induced seizures occur less frequently on the C57BL/6 background than on the NOD background

nervous system
• develop spontaneous seizures as early as 12 weeks of age, however locomotion appears normal as homozygotes are not stiff, hyperactive, or ataxic and do not have tremors
• spontaneous seizures are rare and usually occur less than once per week
• Background Sensitivity: fear and/or mild stress occasionally induces seizures; stress induced seizures occur less frequently on the C57BL/6 background than on the NOD background

homeostasis/metabolism
N
• Background Sensitivity: GABA brain levels are normal unlike on the NOD background
• glucose homeostasis is normal

reproductive system
N
• normal fertility and development

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Stiff-Person syndrome DOID:13366 OMIM:184850
J:44638


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory