Phenotypes Associated with This Genotype

Genotype
MGI:3605225

• Allelic Composition: Large1^vls/Large1^vls
• Genetic Background: B6.CAST(Cg)-Large1^vls/Pjn

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina vasculature morphology ( J:100214 )

• 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

abnormal retina layer morphology ( J:100214 )

• layer is disorganized with a reduction in synaptic complexes

• layer is thinner than in control littermates

abnormal retina neuronal layer morphology ( J:100214 )

abnormal retina ganglion layer morphology ( J:100214 )

• exhibits intracellular edema

disorganized retina ganglion layer ( J:100214 )

• appears disorganized

abnormal retina inner nuclear layer morphology ( J:100214 )

• exhibits intracellular edema

thin retina inner nuclear layer ( J:100214 )

• thinning of layer observed with aging

abnormal retina outer plexiform layer morphology ( J:100214 )

disorganized retina outer plexiform layer ( J:100214 )

• layer is disorganized with a reduction in synaptic complexes

thin retina outer plexiform layer ( J:100214 )

• layer is thinner than in control littermates

abnormal vitreous body morphology ( J:100214 )

• bilateral pigmented or non-pigmented vitreal masses

• bundles of axons and thick walled blood vessels observed in peripheral vitreous

vitreal fibroplasia ( J:100214 )

vitreous body deposition ( J:100214 )

• exhibits fibrous tissue in the vitreous body that appears cobweb or veil-like

abnormal eye electrophysiology ( J:100214 )

• 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

abnormal myocardium layer morphology ( J:100214 )

• 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

dilated cardiomyopathy ( J:100214 )

• adult onset

abnormal soleus morphology ( J:100214 )

• occasional signs of fiber-type grouping in 6 month old mice

abnormal diaphragm morphology ( J:100214 )

• 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

decreased body size ( J:100214 )

homeostasis/metabolism

increased circulating creatinine level ( J:100214 )

• four-fold higher compared to control

behavior/neurological

decreased grip strength ( J:100214 )

• 50% reduction in grip strength

cardiovascular system

abnormal retina vasculature morphology ( J:100214 )

• 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

abnormal myocardium layer morphology ( J:100214 )

• 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

dilated cardiomyopathy ( J:100214 )

• adult onset

limbs/digits/tail

abnormal soleus morphology ( J:100214 )

• 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