Phenotypes associated with this allele

• Allele Symbol: Srrm3^{Gt(IST12726F8)Tigm}
• Allele Name: gene trap IST12726F8, Texas A&M Institute for Genomic Medicine
• Allele ID: MGI:4088169
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Srrm3^Gt(IST12726F8)Tigm/Srrm3^Gt(IST12726F8)Tigm	involves: C57BL/6N	MGI:6378725
cx2	Srrm3^Gt(IST12726F8)Tigm/Srrm3^Gt(IST12726F8)Tigm Srrm4^bv/Srrm4^bv	involves: C57BL/6N	MGI:6378726

Genotype
MGI:6378725

hm1

• Allelic Composition: Srrm3^{Gt(IST12726F8)Tigm}/Srrm3^{Gt(IST12726F8)Tigm}
• Genetic Background: involves: C57BL/6N

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

mortality/aging

premature death ( J:281311 )

• mice show decreased survival after P21, with most dying before P200

growth/size/body

decreased body size ( J:281311 )

decreased body weight ( J:281311 )

behavior/neurological

tremors ( J:281311 )

ataxia ( J:281311 )

impaired coordination ( J:281311 )

• mice spend less time on the rotarod than wild-type mice at 1, 2, and 3 months of age

nervous system

abnormal cerebellum external granule cell layer morphology ( J:281311 )

• the external germinal layer of the cerebellum, which forms from granule cell precursors, persists longer than normal and is thus thicker at P16

Purkinje cell degeneration ( J:281311 )

• most Purkinje cells degenerate between P40 and P90

• however, neurodegeneration in the cortex is not seen

Genotype
MGI:6378726

cx2

• Allelic Composition: Srrm3^{Gt(IST12726F8)Tigm}/Srrm3^{Gt(IST12726F8)Tigm}; Srrm4^bv/Srrm4^bv
• Genetic Background: involves: C57BL/6N

mortality/aging

neonatal lethality, complete penetrance ( J:281311 )

• mice die neonatally due to an inability to start breathing

respiratory system

respiratory failure ( J:281311 )

• none of the newborn mice start to breathe and alveoli of newborns are not expanded with air

nervous system

abnormal neuron physiology ( J:281311 )

• cortical neurons form functional synapses in vitro, but their spontaneous activity is abnormal, with calcium oscillations being of an abnormally high amplitude and low frequency and they are highly synchronized

• however, no anatomical defects are seen in the brain at E19

abnormal GABA-mediated receptor currents ( J:281311 )

• cortical neuron cultures treated with the GABA(A)R inhibitor gabazine show a reduction in the amplitude and an increase in the frequency of calcium oscillations, the opposite of wild-type cultures which show increased amplitude and decreased frequency of calcium oscillations

• cortical neurons are defective for the developmental switch in GABAergic neurotransmission

• cortical neuron cultures and brain slice cultures treated with the GABA(A)R agonist muscimol show increased intracellular calcium compared to wild-type cultures in which few neurons respond to muscimol

• more neurons from spinal cord slices respond to a mix of GABA and glycine with elevated intracellular calcium than in wild-type slices