About   Help   FAQ
CrxRip
Spontaneous Allele Detail
Nomenclature
Symbol: CrxRip
Name: cone-rod homeobox; retina with immature photoreceptors
MGI ID: MGI:5515375
Gene: Crx  Location: Chr7:15865947-15879955 bp, - strand  Genetic Position: Chr7, 8.6 cM
Photoreceptor abnormalities in CrxRip/Crx+, CrxRip/CrxRip, and Crxtm1Clc/Crxtm1Clc retinas

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA spontaneous 1-bp deletion in exon 4 introduces a frame shift mutation that skips the C-terminal Otx-like domain and adds 133 unrelated residues. Western blot analysis confirmed the expression of the larger (44 kDa) than normal (34 kDa) protein in the retina. (J:203337)
Inheritance:    Dominant
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 3 anatomical structures
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 Crx Mutation:  21 strains or lines available
References
Original:  J:203337 Roger JE, et al., OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J Clin Invest. 2014 Feb;124(2):631-43
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
03/03/2020
MGI 6.15
The Jackson Laboratory