About   Help   FAQ
CrygeElo
Spontaneous Allele Detail
Nomenclature
Symbol: CrygeElo
Name: crystallin, gamma E; eye lens obsolescence
MGI ID: MGI:1857599
Synonyms: CrygeCat2-Elo, ELO
Gene: Cryge  Location: Chr1:65048554-65051149 bp, - strand  Genetic Position: Chr1, 32.8 cM
Mutation
origin
Strain of Origin:  (C57BL/6JNga x Japanese fancy mouse (Oca2p))F4
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA single base (G) deletion at nucleotide position 403 (codon 135) in the fourth ""Greek key"" motif of the Cryge gene product, causes a frameshift mutation that can translate for another 11 amino acids before prematurely terminating (codon 146). The truncated peptide lacking the fourth ""Greek key"" probably leads to misfolding of the crystallin gene product and may act as a dominant negative. (J:2144)
Inheritance:    Semidominant
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Cryge Mutation:  8 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Congenital Cataracts in heterozygous mice (J:15383)

References
Original:  J:15383 Oda SI, et al., A new mutation, eye lens obsolescence, Elo, on Chromosome 1 in the mouse. Jpn J Genet. 1980;55:71-5
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2015
MGI 5.22
The Jackson Laboratory