Mouse Genome Informatics
hm
    Largemyd/Largemyd
B6C3Fe a/a-Largemyd/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
muscle
• mutants exhibit focal patches of cardiac myocyte membrane damage
• accompanies skeletal muscle fiber necrosis
• both fast and slow muscle fiber types show increased size variation
• many degenerating and regenerating fibers
• foci of degeneration are typically large, irregularly shaped and involve 20-50 necrotic fibers
• in addition to foci of 20-50 necrotic fibers, individual or smaller groups of necrotic fibers are also seen
• dystrophic calcification is seen ion areas of skeletal muscle necrosis

immune system
• accompanies skeletal muscle fiber necrosis

hearing/vestibular/ear
• decreased wave IV amplitude
• mean wave IV threshold increased
• prolonged I-IV interpeak latencies

cardiovascular system
• focal interstitial myocardial collagen deposition is seen at 10 months of age, indicating cardiac remodeling that occurs following myocardial damage
• mutants exhibit focal patches of cardiac myocyte membrane damage

homeostasis/metabolism
• affected animals have an elevated serum CK range compared to controls
• mice exhibit hypoglycosylation of almost all alpha-dystroglycan compared to in wild-type mice
• laminin-binding activity of alpha-dystroglycan is less than 5% of normal

behavior/neurological
• homozygous mice tightly adduct the hindlimbs and curl toes when suspended by the tail
• variable severity at 3 weeks of age; some exhibit gait abnormalities and others could not be identified by this observation

growth/size/body
• variable severity at 3 weeks of age; some are clearly smaller and others could not be identified by size

Mouse Models of Human Disease
OMIM IDRef(s)
Facioscapulohumeral Muscular Dystrophy 1; FSHD1 158900 J:27793