Mouse Genome Informatics
hm
    Largemyd/Largemyd
B6.Cg-Largemyd/Pjn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• almost 50% thinner than in controls
• layer is disorganized with a reduction in synaptic complexes
• mitochondria are swollen with severe disruption of cristae
• exhibits extracelluelar edema
• layer is thinner than in control littermates
• amplitude of b-wave responses is reduced and delayed at all flash intensities in 2 month old mice
• larger negative polarity a-wave in response to intermediate flash intensities in 2 month old mice
• maximum amplitude of a-wave reduced in response to highest flash intensities in 2 month old mice

muscle
• adult onset
• exhibits prominent interstial fibrosis with extensive degeneration and regeneration of myofibers at 1.5 months of age
• by 4 months diaphragm exhibits necrosis and fatty infiltration
• occasional signs of fiber-type grouping in 6 month old mice

cardiovascular system
• myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice
• lesions observed in the left and right atria and ventricles
• adult onset

Mouse Models of Human Disease
OMIM IDRef(s)
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 6; MDDGA6 613154 J:100214