Phenotypes associated with this allele

• Allele Symbol: Ighmbp2^em1Cx
• Allele Name: endonuclease-mediated mutation 1, Gregory Cox
• Allele ID: MGI:7495583
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ighmbp2^em1Cx/Ighmbp2^em1Cx	C57BL/6J-Ighmbp2^em1Cx/Cx	MGI:7495585

Genotype
MGI:7495585

hm1

• Allelic Composition: Ighmbp2^em1Cx/Ighmbp2^em1Cx
• Genetic Background: C57BL/6J-Ighmbp2^em1Cx/Cx

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

nervous system

abnormal neuromuscular synapse morphology ( J:337488 )

• assessment of the gastrocnemius muscle found progressive loss of innervation by 8 weeks

axonal dystrophy ( J:337488 )

• degeneration of femoral sensory and motor nerves, with progressive myelinated sensory axon degeneration beginning around 4 weeks of age and progressive motor axon degeneration beginning around 10 weeks of age

muscle

decreased skeletal muscle weight ( J:337488 )

• by 4 weeks

muscular atrophy ( J:337488 )

skeletal muscle fiber atrophy ( J:337488 )

behavior/neurological

abnormal motor coordination/balance ( J:337488 )

• homozygotes take longer to remove an adhesive sticker from the forehead, have decreased time on the rotarod, and females show decreased number of rotations of the voluntary running wheel

impaired coordination ( J:337488 )

decreased grip strength ( J:337488 )

• decreased in both males and females as by 4 weeks of age

paraparesis ( J:337488 )

• progressive paresis of the hind quarters first seen by 2-3 months

allodynia ( J:337488 )

• by 12 weeks

increased thermal nociceptive threshold ( J:337488 )

• marginal decrease in thermosensitivity

growth/size/body

cachexia ( J:337488 )

thin body ( J:337488 )

cardiovascular system

cardiovascular system phenotype ( J:337488 )

N • heartrate, EKG parameters and heart size are normal

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