Phenotypes Associated with This Genotype

Genotype
MGI:3777759

• Allelic Composition: Crygb^S11R/Crygb^S11R
• Genetic Background: A/J-Crygb^S11R

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

vision/eye

abnormal lens morphology ( J:132502 , J:165131 )

• at 220-350 um from lens capsule, lenses display unique ringlike structure which causes abnormal light scattering (J:132502)

• at 1 day of age lenses show a lack of F-actin and extremely low levels of cystosolic gamma-crystallin in interior fiber cells and substantial membrane-associated gamma-crystallin aggregates in the lens. Assessment at 10 days of age finds elevated total calcium in the lens. (J:165131)

abnormal lens fiber morphology ( J:132502 , J:165131 )

• inner fiber cells of lenses show uneven toluidine blue staining with abnormally darkly stained areas at P3 (J:132502)

• at P21, peripheral fiber cells are relatively normal, similar to wild-type (J:132502)

• in some animals, disintegrated fibers appear in core of lens while lens peripheral fiber cells have normal morphology (J:132502)

• fiber cells of the lens core show enlargement of extracellular spaces, disrupted fiber-to-fiber contact, and deterioration of intracellular components (J:165131)

nuclear cataract ( J:132502 )

• mice develop dense nuclear cataracts by weaning age (P21); cataract can be visualized at P7, but not at P1

• cataracts occur with full penetrance on various backgrounds (coisogenic A/J, or mixed A/J and C57BL/6J or 129 backgrounds)

• periphery of lens remains transparent, even in older mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 39 multiple types		DOID:0110236	OMIM:615188	J:132502