Phenotypes for Large1 MGI:3605230 MGI Mouse

vision/eye

abnormal retina layer morphology ( J:100214 )

thin retina outer nuclear layer ( J:100214 )

• 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

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

• 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

cardiovascular system