Phenotypes Associated with This Genotype

Genotype
MGI:2183031

• Allelic Composition: Crybb2^Phil/Crybb2^Phil
• Genetic Background: Swiss Webster

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

vision/eye

abnormal lens morphology ( J:6293 )

• dry weight is markedly reduced

• while normal lenses maintain a high potassium--low sodium content, in mutant lenses this ratio is reversed, beginning at about 15 days; appears to be due to a change in membrane permeability rather than to a defect in the cation pump mechanism

nuclear cataract ( J:6293 )

subcapsular cataract ( J:6293 )

• visible to the naked eye at 5 to 6 weeks after birth, faint anterior opacity is visible at 15 days of age by slit lamp observation

• at 45 days, there is total dense nuclear opacity along with striking anterior and posterior subcapsular opacity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 3 multiple types		DOID:0110269	OMIM:601547	J:11126