Phenotypes associated with this allele

• Allele Symbol: Crygb^S11R
• Allele Name: S11R
• Allele ID: MGI:3777015
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Crygb^S11R/Crygb^S11R	A/J-Crygb^S11R	MGI:3777759
ht2	Crygb^S11R/Crygb^+	A/J-Crygb^S11R	MGI:3777758
cx3	Crygb^S11R/Crygb^S11R Gja8^tm1(Gja3)Tww/Gja8^tm1(Gja3)Tww	involves: A/J * C57BL/6J	MGI:6099062

Genotype
MGI:3777759

hm1

• 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

Genotype
MGI:3777758

ht2

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

vision/eye

abnormal lens morphology ( J:132502 )

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

abnormal lens fiber morphology ( J:132502 )

• inner fiber cells of lenses show uneven toluidine blue staining with abnormally darkly stained areas at P3

• at P21, peripheral fiber cells are relatively normal, similar to wild-type

nuclear cataract ( J:132502 )

• mice display hazy nuclear cataracts by weaning age

• 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

Genotype
MGI:6099062

cx3

• Allelic Composition: Crygb^S11R/Crygb^S11R; Gja8^tm1(Gja3)Tww/Gja8^tm1(Gja3)Tww
• Genetic Background: involves: A/J * C57BL/6J

vision/eye

vision/eye phenotype ( J:165131 )

N • the enlarged extracellular spaces and disrupted fiber-to-fiber contacts in the fiber cells of the lens core of crystallin gamma b mutants is rescued in these double homozygotes

abnormal lens morphology ( J:165131 )

• while the alpha 3 connexin knockin rescues the dense nuclear cataract otherwise caused by the crystallin gamma b mutation, a very mild cortical opacity with a ring-like defect is still found in these double homozygotes and the lenses have much lower light scattering at 21 days of age compared with un-rescued crystallin gamma b mutants, but is still 6% higher than wild-type controls