reproductive system
• mice seem to produce litters less frequently than wild-type mice
|
• mice seem to produce smaller litters than wild-type mice
|
muscle
N |
• despite abnormal skeletal muscle fiber morphology, mice do not exhibit regenerating fibers or denervation
|
• skeletal muscle fibers are smaller in diameter
|
• skeletal muscle fibers are more varied in diameter
|
• skeletal muscle fibers have centrally located nuclei
|
• mutant skeletal muscles exhibit a decrease in fast and an increase in slow myosin heavy chain isoform expression
|
nervous system
• myelinated axons in the L4 ventral roots exhibit decreased diameter compared to in wild-type mice
• however, the number of axons is normal
|
behavior/neurological
• on a wire hang test, mice exhibit reduced latency to fall compared to wild-type mice
|
• grip strength is reduced 17% compared to in wild-type mice
|
growth/size/body
• at 8 weeks and at later ages, male mice are 10% heavier than wild-type mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal recessive limb-girdle muscular dystrophy type 2H | DOID:0110282 |
OMIM:254110 |
J:146155 |