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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gad2tm1Bae
targeted mutation 1, Steinunn Baekkeskov
MGI:1861928
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gad2tm1Bae/Gad2tm1Bae involves: 129X1/SvJ MGI:3762156
hm2
Gad2tm1Bae/Gad2tm1Bae involves: 129X1/SvJ * C57BL/6 MGI:2177574
hm3
Gad2tm1Bae/Gad2tm1Bae involves: 129X1/SvJ * NOD MGI:2177575


Genotype
MGI:3762156
hm1
Allelic
Composition
Gad2tm1Bae/Gad2tm1Bae
Genetic
Background
involves: 129X1/SvJ
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
nervous system
N
• perisomatic innervation of the visual cortex is normal




Genotype
MGI:2177574
hm2
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
• glucose homeostasis is normal
• Background Sensitivity: GABA brain levels are normal unlike on the NOD background

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




Genotype
MGI:2177575
hm3
Allelic
Composition
Gad2tm1Bae/Gad2tm1Bae
Genetic
Background
involves: 129X1/SvJ * NOD
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

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

nervous system
• Background Sensitivity: exhibit an 11-fold higher incidence of stress-induced seizures than on the C57BL/6 background
• develop spontaneous seizures
• Background Sensitivity: decrease in brain GABA levels unlike the normal levels on the C57BL/6 background, however glucose homeostasis is normal

homeostasis/metabolism
• Background Sensitivity: decrease in brain GABA levels unlike the normal levels on the C57BL/6 background, however glucose homeostasis is normal

reproductive system
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





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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory