Phenotypes associated with this allele

• Allele Symbol: Slc32a1^tm1Bros
• Allele Name: targeted mutation 1, Nils Brose
• Allele ID: MGI:3714029
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc32a1^tm1Bros/Slc32a1^tm1Bros	involves: 129P2/OlaHsd	MGI:3714164

Genotype
MGI:3714164

hm1

• Allelic Composition: Slc32a1^tm1Bros/Slc32a1^tm1Bros
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

perinatal lethality, complete penetrance ( J:122318 )

• mice die between E18.5 and birth

nervous system

abnormal inhibitory postsynaptic currents ( J:122318 )

• majority (58%) of nonglutamatergic Slc32a1-null neurons show no evoked response in striatal neuron cultures

• miniature inhibitory postsynaptic current (mIPSC) frequency and amplitude are either eliminated or drastically reduced in striatal neuron cultures

• in autaptic spinal cord neuron cultures, 88/108 neurons exhibit no IPSCs, while 20 neurons show responses that ar reduced 80% relative to wild-type

• glycinergic mIPSC frequencies recorded from spinal cord neurons are ~5% of wild-type; amplitude of glycinergic mIPSCs is reduced to 39% of wild-type spinal cord neurons

decreased neurotransmitter release ( J:122318 )

• transmitter release from GABAergic neurons in hippocampus and striatum is significantly reduced or eliminated in E17.5 neurons

• vesicular release probability of mutant neurons with detectable evoked IPSCs is reduced to 16% compared to 23% in wild-type neurons

• transmitter release from spinal cord neurons is also eliminated or drastically reduced

behavior/neurological

hunched posture ( J:122318 )

no spontaneous movement ( J:122318 )

• at E17.5, fetal mice are completely immobile and stiff; lack of movement is also noted earlier at E15.5-16.5, suggesting lack of excitatory drive

craniofacial

cleft secondary palate ( J:122318 )

• in homozygotes

digestive/alimentary system

cleft secondary palate ( J:122318 )

• in homozygotes

muscle

muscle hypertonia ( J:122318 )

• at E17.5, mice are stiff, likely as result of overexcitation

growth/size/body

cleft secondary palate ( J:122318 )

• in homozygotes

omphalocele ( J:122318 )

• displayed by homozygous embryos