Mouse Genome Informatics
involves: 129P2/OlaHsd * C57BL/6
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• mice seem to produce smaller litters than wild-type mice
• mice seem to produce litters less frequently than wild-type mice

• 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
• skeletal muscle fibers exhibit sarcotubular myopathy

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

• 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

• at 8 weeks and at later ages, male mice are 10% heavier than wild-type mice

Mouse Models of Human Disease
Muscular Dystrophy, Limb-Girdle, Type 2H; LGMD2H 254110 J:146155