Phenotypes Associated with This Genotype

Genotype
MGI:7495806

• Allelic Composition: Ighmbp2^em5Cx/Ighmbp2^em5Cx
• Genetic Background: C57BL/6J-Ighmbp2^em5Cx/Cx

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

behavior/neurological

abnormal motor coordination/balance ( J:337488 )

decreased grip strength ( J:337488 )

• latency to fall in the inverted wire hang test is much shorter even at 3 weeks of age

growth/size/body

decreased body weight ( J:337488 )

nervous system

abnormal neuromuscular synapse morphology ( J:337488 )

• at 16 weeks of age the neuromuscular junction of the assessed skeletal muscle had the majority of junctions denervated and an additional number partially denervated

axonal dystrophy ( J:337488 )

• By 8 weeks 13% reduction in the sensory branch and 34% reduction in the motor branch of the femoral nerve

decreased nerve conduction velocity ( J:337488 )

• sciatic nerve cell conduction velocity is significantly reduce in homozygotes and reduced to an intermediate level in heterozygotes, which is distinct from the em1Cx allele which does not show this reduction

muscle

muscular atrophy ( J:337488 )

• hindlimb wasting and decreased body weight with motor function deficits evident by 3 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease axonal type 2S		DOID:0110171	OMIM:616155	J:337488