Phenotypes Associated with This Genotype

Genotype
MGI:3613518

• Allelic Composition: Mtmr2^tm1Ueli/Mtmr2^tm1Ueli
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

nervous system

nervous system phenotype ( J:104120 )

N • despite myelination abnormalities, no significant differences in compound muscle action potential amplitudes, nerve conduction velocities or F-wave latencies

abnormal myelination ( J:104120 )

• in the peripheral nerves, mutant mice exhibit a variable and complex degree of myelin infoldings and outfoldings, mainly in the paranodal regions

• defects usually are associated with large caliber axons; small caliber and non-myelinated axons appear unaffected

• defects are progressive with age; rare defects are noted at 3 weeks of age and older mice at 6 months of age tend to have more affected nerve fibers

behavior/neurological

limb grasping ( J:104120 )

• rarely, mutant mice exhibit a mild clasping reflex when suspended by the tail

• no other siginificant motor or strength defects were detected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4B1		DOID:0110191	OMIM:601382	J:104120