Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Crxtm2.1Smgc Name: cone-rod homeobox; targeted mutation 2.1, Shiming Chen MGI ID: MGI:5621025 Synonyms: CrxR90W Gene: Crx  Location: Chr7:15599872-15613880 bp, - strand  Genetic Position: Chr7, 8.6 cM Alliance: Crxtm2.1Smgc page

Crxtm1.1Smgc/Crxtm1.1Smgc, Crxtm2.1Smgc/Crxtm2.1Smgc, and Crxtm1Clc/Crxtm1Clc mice develop Leber Congenital Amaurosis-like retinopathy Show the 3 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:211011
Parent Cell Line:	SCC10 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Humanized sequence) Mutation:    Nucleotide substitutions   Mutation details: Exon 4 was modified by nucleotide substitutions (CGT to TGG) that result in the amino acid substitution of tryptophan for arginine at position 90 (R90W) in the DNA binding domain, mimicking a mutation associated with the autosomal dominant form of cone-rod dystrophy (adCoRD) and with autosomal recessive Leber Congenital Amaurosis (LCA). Cre-mediated recombination removed the floxed allele inserted upstream of exon 4. (J:211011)

Generation of the Crxtm1Smgc, Crxtm1.1Smgc and Crxtm2.1Smgc alleles

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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:	26 strains or lines available

Original:	J:211011 Tran NM, et al., Mechanistically distinct mouse models for CRX-associated retinopathy. PLoS Genet. 2014 Feb;10(2):e1004111
All:	3 reference(s)