Phenotypes Associated with This Genotype

Genotype
MGI:2177574

• Allelic Composition: Gad2^tm1Bae/Gad2^tm1Bae
• Genetic Background: involves: 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:44638 )

• less than 70% survive to 7 months of age

behavior/neurological

seizures ( J:44638 )

• 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

seizures ( J:44638 )

• 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

homeostasis/metabolism phenotype ( J:44638 )

N • Background Sensitivity: GABA brain levels are normal unlike on the NOD background

N • glucose homeostasis is normal

reproductive system

reproductive system phenotype ( J:44638 )

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