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CryaaL1N
Chemically induced Allele Detail
Summary
Symbol: CryaaL1N
Name: crystallin, alpha A; L1N
MGI ID: MGI:3665274
Synonyms: alphaAY118D
Gene: Cryaa  Location: Chr17:31896905-31900704 bp, + strand  Genetic Position: Chr17, 17.09 cM, cytoband A3-B
Alliance: CryaaL1N page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsSequencing analysis revealed that a T-to-G tranversion mutation occurred which resulted in the substitution of the tyrosine residue at codon 118 by an aspartic acid in the encoded protein. (J:112248)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Cryaa Mutation:  15 strains or lines available
References
Original:  J:112248 Xia CH, et al., Arginine 54 and Tyrosine 118 residues of {alpha}A-crystallin are crucial for lens formation and transparency. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3004-10
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory