Phenotypes associated with this allele

• Allele Symbol: Gad1^tm1Oba
• Allele Name: targeted mutation 1, Kunihiko Obata
• Allele ID: MGI:2177565
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gad1^tm1Oba/Gad1^tm1Oba	involves: C57BL/6 * CBA	MGI:2177572
ht2	Gad1^tm1Oba/Gad1^+	involves: C57BL/6 * CBA	MGI:3714931
cx3	Gad1^tm1Oba/Gad1^+ Gad2^tm1Oba/Gad2^tm1Oba	involves: C57BL/6 * CBA	MGI:3714932
cx4	Gad1^tm1Oba/Gad1^tm1Oba Gad2^tm1Oba/Gad2^tm1Oba	involves: C57BL/6 * CBA	MGI:3714933

Genotype
MGI:2177572

hm1

• Allelic Composition: Gad1^tm1Oba/Gad1^tm1Oba
• Genetic Background: involves: C57BL/6 * CBA

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

Gad1^tm1Oba/Gad1^tm1Oba mice and cleft palate

mortality/aging

neonatal lethality, complete penetrance ( J:40978 )

• homozygous mice are produced at Mendelian frequency and are initially indistinguishable from normal littermates, but die by P0.5

growth/size/body

cleft palate ( J:40978 )

distended abdomen ( J:40978 )

• after birth, mice display a gradual swelling of the bowels; stomach, jejunum and duodenum are filled with air

craniofacial

cleft palate ( J:40978 )

behavior/neurological

behavior/neurological phenotype ( J:40978 )

N • limb and trunk movements in newborns are coordinated without apparent neurological abnormalities

absent gastric milk in neonates ( J:40978 )

• stomachs of newborn homozygotes remain devoid of milk spots; however, suckling response is similar to that of wild-type mice

respiratory system

atelectasis ( J:40978 )

• lungs are partially aerated, but are mostly atelectatic

respiratory distress ( J:40978 )

• mice exhibit gasping after birth

homeostasis/metabolism

decreased gamma-aminobutyric acid level ( J:40978 )

• gamma isoaminobutryic acid (GABA) levels are 7% of wild-type levels in cerebral cortex at P0.5; similar degree of reduction is observed at E14.5

cyanosis ( J:40978 )

• newborns become cyanotic after birth

decreased glutamate decarboxylase activity ( J:40978 )

• glutamic acid decarboxylase activity is 20% of wild-type littermates at P0.5; similar degree of reduction is observed at E14.5

digestive/alimentary system

cleft palate ( J:40978 )

Genotype
MGI:3714931

ht2

• Allelic Composition: Gad1^tm1Oba/Gad1⁺
• Genetic Background: involves: C57BL/6 * CBA

homeostasis/metabolism

decreased gamma-aminobutyric acid level ( J:40978 )

• GABA levels in cortex at P0.5 are 65% of wild-type; similar degree of reduction is observed at E14.5

decreased glutamate decarboxylase activity ( J:40978 )

• glutamic acid decarboxylase activity in cerebral cortex is 62% of wild-type littermates at P0.5; similar reduction is observed at E14.5

Genotype
MGI:3714932

cx3

• Allelic Composition: Gad1^tm1Oba/Gad1⁺; Gad2^tm1Oba/Gad2^tm1Oba
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

premature death ( J:102619 )

• most die before 15 weeks of age, especially during pregnancy

lethality throughout fetal growth and development, incomplete penetrance ( J:102619 )

• frequency at birth is lower than at E14

Genotype
MGI:3714933

cx4

• Allelic Composition: Gad1^tm1Oba/Gad1^tm1Oba; Gad2^tm1Oba/Gad2^tm1Oba
• Genetic Background: involves: C57BL/6 * CBA

homeostasis/metabolism

decreased gamma-aminobutyric acid level ( J:102619 )

• GABA content in double nulls is very low (0.02% that of Gad2-heterozygous, Gad1-null mice)

mortality/aging

neonatal lethality, complete penetrance ( J:102619 )

• mice die shortly after birth

craniofacial

cleft palate ( J:102619 )

nervous system

nervous system phenotype ( J:102619 )

N • mutant and wild-type brains are similar in size and morphology; no histological abnormalities are observed in neocortex, cerebellum or hippocampus

N • neurons and Purkinje cells develop normally in mutants, with normal axon and dendrite formation

digestive/alimentary system

cleft palate ( J:102619 )

growth/size/body

cleft palate ( J:102619 )