|
|
| Nomenclature |
|
Symbol:
|
Cryaatm1.1Ady
|
|
Name:
|
crystallin, alpha A;
targeted mutation 1.1, Usha P Andley
|
|
MGI ID: |
MGI:3777403 |
|
Synonyms: |
alpha-R49C knock-in |
|
Gene:
|
Cryaa
Location:
Chr17:31677945-31681724 bp, + strand
Genetic Position: Chr17,
17.09 cM, cytoband A3-B
|
|
Lens opacity in Cryaatm1.1Ady/Cryaa+, and Cryaatm1.1Ady/Cryaatm1.1Ady mice and microphthalmia in Cryaatm1.1Ady/Cryaatm1.1Ady mice
Show the 4 image(s) involving this allele.
|
 |
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:132296
|
|
Parent Cell Line:
| Not Specified (ES Cell) |
|
Strain of Origin:
|
129
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutation: | |
Nucleotide substitutions |
| |
|
Mutation details: The codon for arginine 49 was altered to cysteine by homologous recombination. A loxP flanked neomycin cassette was introduced between exon 1 and 2, then subsequently was deleted by crossing with cre expressing transgenic mice. Mass spectrometry analyses confirmed alpha-R49C mutant protein expression in the mutant lenses. (J:132296)
|
|
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:132296
Xi JH et al.,
"Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell death."
J Biol Chem 2008 Feb 29;283(9):5801-14
|
|
All: |
6 reference(s)
|
|
Analysis Tools
