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Phenotypes Associated with This Genotype
Not Specified
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phenotype observed in females
phenotype observed in males
N normal phenotype
• limp hindpaws due to a failure to dorsiflex at the ankle
• at rest, mice leave their hind limbs extended behind their bodies rather than bringing them under their haunches
• mice exhibit an abnormal gait characterized by dragging of hindlimbs and supporting themselves on the hind knuckles rather than soles
• gait defects are evident from birth
• however, mice perform well on the rotarod and beam walking assays

• many motor neurons have highly aggregated mitochondria that cluster along the axon

• 15% reduction in body weight at weaning (P20)

• mice often have clenched hindpaws due to an inability to spread the toes
• hindlimb defects are incompletely penetrant, with 60% bilaterally affected, 26% unilaterally affected, and 14% unaffected
• hindlimb defects are evident from birth
• however, no defect is seen in the forelimbs
• tails are severely deformed
• mice have drastically shorter tails that are severely deformed

• mice exhibit dramatically reduced anterior musculature of the lower leg
• however, the posterior calf muscle mass is normal
• mice with asymptomatic hindlimbs have an intermediate, variable mass of anterior muscle
• foot muscles are smaller in size
• severe weakness of the distal hindlimb muscles

nervous system
• motor roots have fewer motor axons
• lumbar motor roots are smaller
• motor roots at L4 and L5 contain about 40% fewer axons compared to controls
• loss of motor axons is most severe in the small caliber axons
• however, no reduction in the number of axons in sensory roots is seen
• many motor neurons show improper mitochondrial distribution, with tight clusters of mitochondria within axons

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 2A2A DOID:0110155 OMIM:609260

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory