Phenotypes Associated with This Genotype

Genotype
MGI:6719084

• Allelic Composition: Nemf^pdft/Nemf^pdft
• Genetic Background: B6(C3)-Nemf^pdft/Cx

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

mortality/aging

lethality at weaning, incomplete penetrance ( J:296528 )

• median lifespan of homozygotes is 20 days with only 20% living beyond 40 days

lethality, complete penetrance ( J:296528 )

behavior/neurological

decreased grip strength ( J:296528 )

• latency to fall when gripping a cage lid is shorter than normal by 2 weeks of age, and surviving homozygotes are unable to perform the test at 8 weeks of age

abnormal gait ( J:296528 )

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

growth/size/body

decreased body size ( J:296528 )

• although outwardly normal at birth, both females and males are significantly smaller than normal by 2 weeks of age and fail to gain weight at a normal rate

decreased body weight ( J:296528 )

slow postnatal weight gain ( J:296528 )

muscle

muscular atrophy ( J:296528 )

• assessment of the medial gastrocnemius finds decreased muscle fiber size by 16-18 days of age

nervous system

abnormal neuromuscular synapse morphology ( J:296528 )

• decreased neuromuscular junction occupancy with denervation and fragmentation of postsynaptic terminals is found in those that survive to 8 weeks of age

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, femoral sensory nerve branches, and L4 ventral roots shows a loss by 16-18 days of age and subsequent decrease in average fiber diameter

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