Phenotypes Associated with This Genotype

Genotype
MGI:6718876

• Allelic Composition: Nemf^tvrm116/Nemf^tvrm116
• Genetic Background: C57BL/6J-Nemf^tvrm116/PjnCx

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

behavior/neurological

decreased grip strength ( J:296528 )

• latency to fall when gripping a cage lid is shorter than normal by 8 weeks of age, but the severity does not appear to progress significantly by 55 days of age

abnormal gait ( J:296528 )

• by approximately 10 weeks of age the neurodegeneration and hindlimb wasting results in an odd, waddling gait in the hindquarters

muscle

muscular atrophy ( J:296528 )

• assessment of the medial gastrocnemius finds decreased muscle fiber size by 8 weeks of age, along with collagenous fibrosis and fat depositions

growth/size/body

decreased body size ( J:296528 )

• both males and females are significantly smaller than unaffected littermate by 8 weeks oaf age and this progresses, but this phenotype is much less severe than that of mice homozygous for the pdft allele

slow postnatal weight gain ( J:296528 )

nervous system

abnormal neuromuscular synapse morphology ( J:296528 )

• decreased neuromuscular junction occupancy is found by 8 weeks of age and progresses with age with denervation and fragmentation of postsynaptic terminals

neurodegeneration ( J:296528 )

neuron degeneration ( J:296528 )

axon degeneration ( J:296528 )

• measurements of the myelinated axon numbers in cross sections of femoral motor nerve branches shows a loss of the largest fibers by 8 weeks of age and subsequent decrease in average fiber diameter. L4 ventral roots show a decrease in number of proximal axons by 16-18 days of age and this progresses with age

peripheral nervous system degeneration ( J:296528 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuromuscular disease		DOID:440		J:296528
neuropathy		DOID:870		J:296528