|
|
| Nomenclature |
|
Symbol:
|
Crygsrncat
|
|
Name:
|
crystallin, gamma S;
recessive nuclear cataract
|
|
MGI ID: |
MGI:2181679 |
|
Synonyms: |
rncat |
|
Gene:
|
Crygs
Location:
Chr16:22805203-22811410 bp, - strand
Genetic Position: Chr16,
13.66 cM
|
|
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 |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
2 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)
|
|
Analysis Tools
