Phenotypes Associated with This Genotype

Genotype
MGI:6276577

• Allelic Composition: Mpz^tm1Msch/Mpz⁺; Tg(Mpz*S63X)31Mes/0
• Genetic Background: involves: 129S7/SvEvBrd * FVB/N

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

behavior/neurological

impaired coordination ( J:105751 )

• mice are able to remain for only half as long on an accelerating rotarod compared to wild-type mice

nervous system

decreased myelin sheath thickness ( J:105751 )

• sciatic and digital nerves show thin myelin sheaths, more pronounced distally in digital nerves and progressing with age

axon degeneration ( J:105751 )

• occasional axonal degeneration in digital nerves

demyelination ( J:105751 )

• sciatic and digital nerves show onion bulbs and thin myelin sheaths, all more pronounced distally in digital nerves, and progressing with age

abnormal action potential ( J:105751 )

• compound muscle action potentials recorded from the small foot muscles after supramaximal proximal sciatic nerve stimulation show a trend toward reduced compound muscle action potential amplitude in both facial and sciatic nerves

• compound muscle action potentials show only minor temporal dispersion, indicating uniform changes throughout myelin

decreased nerve conduction velocity ( J:105751 )

• electrophysiological analysis in sciatic nerves shows slowed nerve conduction and prolonged F-wave latency

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1B		DOID:0110152	OMIM:118200	J:105751