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Phenotypes Associated with This Genotype
Genotype
MGI:3605225
Allelic
Composition
Large1vls/Large1vls
Genetic
Background
B6.CAST(Cg)-Large1vls/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Large1vls mutation (1 available); any Large1 mutation (123 available)
phenotype observed in females
phenotype observed in males
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
• 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
• occasional signs of fiber-type grouping in 6 month old mice
• 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

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

limbs/digits/tail
• occasional signs of fiber-type grouping in 6 month old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
muscular dystrophy-dystroglycanopathy type B1 DOID:0050588 OMIM:613155
J:100214


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory