Crygd^Lop12
Spontaneous Allele Detail

Summary

• Symbol: Crygd^Lop12
• Name: crystallin, gamma D; lens opacity 12
• MGI ID: MGI:1858026
• Synonyms: Lop12
• Gene: Crygd Location: Chr1:65101031-65102611 bp, - strand Genetic Position: Chr1, 32.8 cM
• Alliance: Crygd^Lop12 page

Mutation origin

• Strain of Origin: BALB/cJ x SJL/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:60856)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Crygd Mutation: 16 strains or lines available

Notes

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).

References

• Original: J:60856 Smith RS, et al., Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract. Genomics. 2000 Feb 1;63(3):314-20
• All: 3 reference(s)