Phenotypes associated with this allele

• Allele Symbol: Gad2^tm1Bae
• Allele Name: targeted mutation 1, Steinunn Baekkeskov
• Allele ID: MGI:1861928
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gad2^tm1Bae/Gad2^tm1Bae	involves: 129X1/SvJ	MGI:3762156
hm2	Gad2^tm1Bae/Gad2^tm1Bae	involves: 129X1/SvJ * C57BL/6	MGI:2177574
hm3	Gad2^tm1Bae/Gad2^tm1Bae	involves: 129X1/SvJ * NOD	MGI:2177575

Genotype
MGI:3762156

hm1

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

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

nervous system

nervous system phenotype ( J:126581 )

N • perisomatic innervation of the visual cortex is normal

Genotype
MGI:2177574

hm2

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

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

Genotype
MGI:2177575

hm3

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

mortality/aging

premature death ( J:44638 )

behavior/neurological

seizures ( J:44638 )

• Background Sensitivity: exhibit an 11-fold higher incidence of stress-induced seizures than on the C57BL/6 background

• develop spontaneous seizures

nervous system

seizures ( J:44638 )

• Background Sensitivity: exhibit an 11-fold higher incidence of stress-induced seizures than on the C57BL/6 background

• develop spontaneous seizures

homeostasis/metabolism

decreased gamma-aminobutyric acid level ( J:44638 )

• Background Sensitivity: decrease in brain GABA levels unlike the normal levels on the C57BL/6 background, however 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)
epilepsy		DOID:1826		J:44638
NOT	Stiff-Person syndrome	DOID:13366	OMIM:184850	J:44638