Phenotypes associated with this allele

• Allele Symbol: Gad1^tm1Tama
• Allele Name: targeted mutation 1, Nobuaki Tamamaki
• Allele ID: MGI:3590300
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gad1^tm1Tama/Gad1^tm1Tama	involves: C57BL/6 * CBA	MGI:3606800
cx2	Gad1^tm1Tama/? Lhx6^tm2Vpa/Lhx6^tm2Vpa	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * CBA	MGI:3703343
cx3	Gad1^tm1Tama/Gad1^tm1Tama Gad2^tm1Oba/Gad2^tm1Oba	involves: C57BL/6 * CBA	MGI:3714830

Genotype
MGI:3606800

hm1

• Allelic Composition: Gad1^tm1Tama/Gad1^tm1Tama
• Genetic Background: involves: C57BL/6 * CBA

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

behavior/neurological

abnormal involuntary movement ( J:100809 )

• at E14, the frequency of mouth opening and tongue withdrawal are reduced compared to wild-type littermates

nervous system

abnormal nervous system electrophysiology ( J:100809 )

• at E14 the frequency of neural discharges from the hypoglossal nerve and C4 ventral root that stimulate muscle activity in the neck and tongue is reduced however the amplitude of these discharges is similar to wild-type

Genotype
MGI:3703343

cx2

• Allelic Composition: Gad1^tm1Tama/?; Lhx6^tm2Vpa/Lhx6^tm2Vpa
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * CBA

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:119476 )

• most die around E15.5

nervous system

abnormal neuronal migration ( J:119476 )

• at E13.5, migration of cortical interneurons is delayed and cells are not all allocated to the appropriate migratory streams

cellular

abnormal neuronal migration ( J:119476 )

• at E13.5, migration of cortical interneurons is delayed and cells are not all allocated to the appropriate migratory streams

Genotype
MGI:3714830

cx3

• Allelic Composition: Gad1^tm1Tama/Gad1^tm1Tama; Gad2^tm1Oba/Gad2^tm1Oba
• Genetic Background: involves: C57BL/6 * CBA

craniofacial

cleft palate ( J:122055 )

nervous system

abnormal nervous system electrophysiology ( J:122055 )

• no respiratory discharges are recorded from the C4 ventral roots at E18 (4-18/minute in wild-type)

• at E14-15, discharges are very infrequent (0.58/minute), in comparison to wild-type (1.85/minute)

abnormal nerve fiber response ( J:122055 )

• in single neurons from the ventrolateral medulla, spontaneous neural activity does not show any respiratory rhythm, with some neurons firing intermittently and others firing at high frequencies

• in single neurons, substance P application induces 2 types of discharge, brief, respiratory discharges and complex, non-respiratory discharges from C4 roots; with the complex discharges, intermittently firing neurons show pronounced hyperpolarization

• inspiratory neurons which fire during C4 discharge aren't seen in presence of substance P

• strychnine application potentiated the nonrespiratory burst in C4 ventral roots

respiratory system

primary atelectasis ( J:122055 )

respiratory failure ( J:122055 )

• when animals are delivered at E18, homozygotes do not start autonomous breathing, unlike wild-type; physical manipulation of the animals does induce respiration-like movements

digestive/alimentary system

cleft palate ( J:122055 )

growth/size/body

cleft palate ( J:122055 )

omphalocele ( J:122055 )