Crx^tm2.1Smgc
Targeted Allele Detail

Summary

• Symbol: Crx^tm2.1Smgc
• Name: cone-rod homeobox; targeted mutation 2.1, Shiming Chen
• MGI ID: MGI:5621025
• Synonyms: Crx^R90W
• Gene: Crx Location: Chr7:15599872-15613880 bp, - strand Genetic Position: Chr7, 8.6 cM
• Alliance: Crx^tm2.1Smgc page

Crx^tm1.1Smgc/Crx^tm1.1Smgc, Crx^tm2.1Smgc/Crx^tm2.1Smgc, and Crx^tm1Clc/Crx^tm1Clc mice develop Leber Congenital Amaurosis-like retinopathy

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

Mutation origin

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

Mutation description

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 Crx^tm1Smgc, Crx^tm1.1Smgc and Crx^tm2.1Smgc alleles

Expression

In Mice Carrying this Mutation:	3 RNA-Seq or microarray experiment(s)
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: 0 strains available Cell Lines: 0 lines available
• Carrying any Crx Mutation: 27 strains or lines available

References

• 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)