|
|
| Nomenclature |
|
Symbol:
|
CryaaAey7
|
|
Name:
|
crystallin, alpha A;
dominant cataract 7
|
|
MGI ID: |
MGI:2653028 |
|
Synonyms: |
Aey7 |
|
Gene:
|
Cryaa
Location:
Chr17:31677945-31681724 bp, + strand
Genetic Position: Chr17,
17.09 cM, cytoband A3-B
|
|
Mutation origin |
|
Strain of Origin:
|
C3HeB/FeJ
|
|
Mutation description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: The mutation is a T-to-A substitution at position 371 of the mRNA, which corresponds to a region in exon 3. This is predicted to cause a valine to glutamic acid replacement at codon 124. (J:72928)
|
|
Inheritance: | |
Dominant |
|
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 Cryaa Mutation:
|
4 strains or lines available |
|
| References |
|
Original: |
J:72928
Graw J et al.,
"Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene."
Invest Ophthalmol Vis Sci 2001 Nov;42(12):2909-15
|
|
All: |
1 reference(s)
|
|