Crygs^rncat
Spontaneous Allele Detail

Summary

• Symbol: Crygs^rncat
• Name: crystallin, gamma S; recessive nuclear cataract
• MGI ID: MGI:2181679
• Synonyms: rncat
• Gene: Crygs Location: Chr16:22623953-22630160 bp, - strand Genetic Position: Chr16, 13.66 cM
• Alliance: Crygs^rncat page

Mutation origin

• Strain of Origin: Kunming

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation is a G to A transition point mutation at position 489 in exon 3. This alters codon 163 from one encoding a tryptophan to a stop codon, resulting in premature truncation of the last 16 amino acids of the protien. (J:77271)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Crygs Mutation: 42 strains or lines available

References

• Original: J:77271 Bu L, et al., The gammaS-Crystallin Gene Is Mutated in Autosomal Recessive Cataract in Mouse. Genomics. 2002 Jul;80(1):38-44
• All: 2 reference(s)