STOCK Crygd^Lop12/J

Stock number: 001646
Product name: lens opacity 12
Research areas: Sensorineural Research

Description

These mice carry a spontaneous mutation at the Crygd locus characterized by cataracts.

Detailed description

Both homozygous and heterozygous mutant mice develop cataracts by one month of age. The cataracts demonstrate prominent reactive fibrous proliferation surrounding extruded lens cortical fragments, accompanied by focal, mild lymphocytic infiltration. Homozygous mice have eyes that are smaller than wildtype, whereas the heterozygote mouse has an eye size that is intermediate.

Development

Crygd^Lop12 is an autosomal, semidominant, spontaneous mutation discovered in a cross between mice of strains BALB/cJ and SJL/J at The Jackson Laboratory. The mutation was backcrossed once to BALB/cJ, followed by more than 20 generations of sibling matings.

Allele

Symbol: Crygd^Lop12
Name: lens opacity 12
MGI accession ID: MGI:1858026
Generation method: Spontaneous
Marker symbol: Crygd
Marker name: crystallin, gamma D
Chromosome: 1
Strain of origin: BALB/cJ x SJL/J
Molecular note: A G-to-A transition (C-to-T on forward strand) at coding nucleotide position 470 in exon 3 creates a premature termination signal by changing tryptophan codon 157 to a stop codon (p.W157*) and results in a truncated protein after amino acid 156.
General note: Both homozygous and heterozygous mutant mice develop cataracts by one month of age. The catarats demonstrate prominent reactive fibrous proliferation surrounding extruded lens cortical fragments, accompanied by focal, mild lymphocytic infiltration. Homozygous mice have eyes that are smaller than wildtype, whereas the heterozygote mouse has an eye size that is intermediate (J:60856).