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CrygeElo
Spontaneous Allele Detail
Summary
Symbol: CrygeElo
Name: crystallin, gamma E; eye lens obsolescence
MGI ID: MGI:1857599
Synonyms: CrygeCat2-Elo, ELO
Gene: Cryge  Location: Chr1:65087713-65090308 bp, - strand  Genetic Position: Chr1, 32.8 cM
Alliance: CrygeElo page
Mutation
origin
Mutation
description
Allele Type:    Spontaneous (Dominant negative)
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
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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:  25 strains or lines available
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory