Mouse Genome Informatics
involves: 129S6/SvEvTac * C57BL/6
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• despite myelination abnormalities, no significant differences in compound muscle action potential amplitudes, nerve conduction velocities or F-wave latencies (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

• 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
Charcot-Marie-Tooth Disease, Type 4b1; CMT4B1 601382 J:104120