Phenotypes Associated with This Genotype

Genotype
MGI:5571860

• Allelic Composition: Cryab^tm1.1Ady/Cryab^tm1.1Ady
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

homeostasis/metabolism

abnormal reticulophagy ( J:210399 )

• swelling of the endoplasmic reticulum in lens epithelial cells may indicate autophagy without complete lysosomal degradation, however autophagosome formation and sequestration of organelles within the autophagosome appear to occur normally

vision/eye

abnormal lens epithelium morphology ( J:210399 )

• lens epithelial cells have larger autophagosomes and many contain mitochondria

• swelling of the endoplasmic reticulum in lens epithelial cells

abnormal lens fiber morphology ( J:210399 )

• the number and size of speckles in the anterior and posterior lens fiber cells are increased

cataract ( J:210399 )

cellular

abnormal reticulophagy ( J:210399 )

• swelling of the endoplasmic reticulum in lens epithelial cells may indicate autophagy without complete lysosomal degradation, however autophagosome formation and sequestration of organelles within the autophagosome appear to occur normally

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 16 multiple types		DOID:0110250	OMIM:613763	J:210399