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Crybb20377
Chemically induced Allele Detail
Summary
Symbol: Crybb20377
Name: crystallin, beta B2; mutant line 0377
MGI ID: MGI:3796239
Synonyms: 0377-, O377
Gene: Crybb2  Location: Chr5:113206124-113217983 bp, - strand  Genetic Position: Chr5, 55.38 cM
Alliance: Crybb20377 page
Mutation
origin
Strain of Origin:  C3H/El
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis resulted in a nucleotide substitution of A to T at the end of intron 5 that reduces the effectiveness of the splice acceptor site and leads to the insertion of 57 bp at the beginning of exon 6. The inserted base pairs add 19 amino acids to the coded protein and produce an additional loop near the carboxyl terminus. (J:136138)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 40 assay results
1 RNA-Seq or microarray experiment(s)
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Crybb2 Mutation:  13 strains or lines available
References
Original:  J:136138 Ganguly K, et al., Novel allele of crybb2 in the mouse and its expression in the brain. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1533-41
All:  4 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