Phenotypes Associated with This Genotype

Genotype
MGI:7531464

• Allelic Composition: Fyco1^tm1.2Arte/Fyco1^tm1.2Arte
• Genetic Background: involves: C57BL/6J * C57BL/6N * C57BL/6NTac * FVB/N

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

vision/eye

abnormal lens epithelium morphology ( J:336796 )

• at P60, lens epithelial cells show extensive vacuolization

abnormal lens fiber morphology ( J:336796 )

• at P60, lens fiber cells are large and display irregular shapes

• at P0, P7, and P14, differentiating lens fiber cells show abnormal retention of cellular organelles, including endoplasmic reticulum (ER), mitochondria, and Golgi apparatus (GA), suggesting impaired organelle removal

cataract ( J:336796 )

• mice show initial signs of lens opacities at 4 weeks that develop into mild cataracts at ~8 weeks of age

mature cataract ( J:336796 )

• mice develop mature bilateral cataracts by 16 weeks of age; extent of lens opacities is variable among mice

cellular

abnormal Golgi apparatus morphology ( J:336796 )

• at P14, lenses show an increased Golgi apparatus mass relative to age-matched wild-type lenses

abnormal endoplasmic reticulum morphology ( J:336796 )

• at P0, P7, P14 and P21, lenses show an increased ER mass relative to age-matched wild-type lenses

impaired autophagy ( J:336796 )

• at P0, lenses show alterations in many autophagy-associated genes, proteins and lipids, including a 1.48-fold increase in the level of SQSTM1/p62 and a modest accumulation of phosphatidylethanolamine (PE) phospholipids, suggesting impaired autophagy

homeostasis/metabolism

impaired autophagy ( J:336796 )

• at P0, lenses show alterations in many autophagy-associated genes, proteins and lipids, including a 1.48-fold increase in the level of SQSTM1/p62 and a modest accumulation of phosphatidylethanolamine (PE) phospholipids, suggesting impaired autophagy

abnormal phospholipid level ( J:336796 )

• at P0, lenses show a modest accumulation of phosphatidylethanolamine (PE) phospholipids