muscle
• disruption of sarcolemmal integrity
|
• mutants develop a progressive mild muscular dystrophy
• most severly affects the psoas, soleus, and deltoid muscles
• Background Sensitivity: dystrophic muscle is evident at 2 months of a age in mutants on a 129/Sv background while it becomes evident in mutants on a mixed 129/Sv and C57BL/6 at 6 months of age
• myofibers exhibit an increase in apoptosis
|
reproductive system
• transmission ratio distortion, preferred transmission of mutant allele
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal recessive limb-girdle muscular dystrophy type 2A | DOID:0110275 |
OMIM:253600 |
J:66862 |