Phenotypes Associated with This Genotype

Genotype
MGI:6850159

• Allelic Composition: Nemf^em8Cx/Nemf^em8Cx
• Genetic Background: C57BL/6J-Nemf^em8Cx/Cx

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

growth/size/body

decreased body weight ( J:296528 )

• obvious wasting and reduced body weight compared to littermate controls by 7 days of age

muscle

muscular atrophy ( J:296528 )

nervous system

abnormal neuromuscular synapse morphology ( J:296528 )

• greatly decreased neuromuscular junction occupancy is found in assessed medial gastrocnemius assessed near the end of life

neurodegeneration ( J:296528 )

• significantly lower myelinated axon count in both motor and sensory neurons in 9 to 11 day old homozygotes

axon degeneration ( J:296528 )

peripheral nervous system degeneration ( J:296528 )

mortality/aging

preweaning lethality, complete penetrance ( J:296528 )

• homozygotes die by 11 days of age

respiratory system

respiratory distress ( J:296528 )

• near the end of life homozygotes have decreased oxygen saturation and phrenic nerve degeneration

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