About   Help   FAQ
Crb1tm2Wij
Targeted Allele Detail
Summary
Symbol: Crb1tm2Wij
Name: crumbs family member 1, photoreceptor morphogenesis associated; targeted mutation 2, Jan Wijnholds
MGI ID: MGI:3696955
Synonyms: Crb1C249W
Gene: Crb1  Location: Chr1:139124794-139304838 bp, - strand  Genetic Position: Chr1, 60.87 cM
Alliance: Crb1tm2Wij page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:117415
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
    A point mutation in codon 249 resulted in a cysteine to tryptophan substitution in exon 3 (C249W). (J:117415)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 4 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 Crb1 Mutation:  87 strains or lines available
References
Original:  J:117415 van de Pavert SA, et al., A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. J Neurosci. 2007 Jan 17;27(3):564-73
All:  3 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory