C;A-Crygc^Lop20/BocJ

Stock number: 002129
Research areas: Developmental Biology Research, Sensorineural Research

Description

This semidominant gamma crystallin c mutation causes microphthalmia and dense nuclear cataracts.

Detailed description

The semidominant lens opacity 20 (Lop20) mutation in gamma crystallin c causes small eyes, with homozygotes having eyes that are only 30 to 50% the size of wildtype and heterozygotes having eyes that are approximately 75% the size of wildtype. Both homozygotes and heterozygotes develop cataracts that are evident by 1 month of age with dense nuclear opacification with irregular edges at the junction between the nucleus and cortex, and the cortex subsequently becomes cloudy.

Development

The lens opacity 20 (Lop20) mutation was identified in an F1 hybrid mouse from a cross of BALB/cJ x A/J. This semidominant mutation was backcrossed at least once to BALB/cJ then the strain was maintained by sibling intercrossing and eventually maintained homozygous for Lop20. Sperm was cryopreserved from homozygous males at generation F20.

Allele

Symbol: Crygc^Lop20
Name: lens opacity 20
MGI accession ID: MGI:6356332
Generation method: Spontaneous
Attributes: Hypomorph
Marker symbol: Crygc
Marker name: crystallin, gamma C
Marker synonyms: CCL; Cryg; CRYG3; Cryg-5; CTRCT2; Len
Chromosome: 1
Strain of origin: (BALB/cJ x A/J)F1
Molecular note: This spontaneous 2 base pair insertion (GC) in exon 3 causes a frameshift after codon 124 and premature stop at codon 147.