Mouse Genome Informatics
hm
    Largevls/Largevls
B6.CAST(Cg)-Largevls/Pjn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• leakage from the vasculature in the perioptic disc region in 25% of mice as determined by fluorescein angiography
• retinal vessel tortuosity and increase in number of retinal vessels
• Background Sensitivity: in a segregating C57BL/6 and CAST background retinal vessel tortuosity is highly variable
• layer is disorganized with a reduction in synaptic complexes
• layer is thinner than in control littermates
• exhibits intracellular edema
• appears disorganized
• exhibits intracellular edema
• thinning of layer observed with aging
• layer is disorganized with a reduction in synaptic complexes
• layer is thinner than in control littermates
• bilateral pigmented or non-pigmented vitreal masses
• bundles of axons and thick walled blood vessels observed in peripheral vitreous
• exhibits fibrous tissue in the vitreous body that appears cobweb or veil-like
• 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

growth/size/body

homeostasis/metabolism
• four-fold higher compared to control

behavior/neurological
• 50% reduction in grip strength

cardiovascular system
• leakage from the vasculature in the perioptic disc region in 25% of mice as determined by fluorescein angiography
• retinal vessel tortuosity and increase in number of retinal vessels
• Background Sensitivity: in a segregating C57BL/6 and CAST background retinal vessel tortuosity is highly variable
• 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