Crx^tm1Smgc
Targeted Allele Detail

Summary

• Symbol: Crx^tm1Smgc
• Name: cone-rod homeobox; targeted mutation 1, Shiming Chen
• MGI ID: MGI:5699593
• Synonyms: Crx^E168d2neo
• Gene: Crx Location: Chr7:15599872-15613880 bp, - strand Genetic Position: Chr7, 8.6 cM
• Alliance: Crx^tm1Smgc page

Rod outer segment abnormalities in Crx^tm1.1Smgc/Crx⁺ and Crx^tm1Smgc/Crx⁺ mice

Show the 2 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: Intragenic deletion Mutation details: Exon 4 was modified to contain a 2 base pair deletion in the transactivation domain (E168d2) linked to early onset severe autosomal dominant forms of cone-rod dystrophy (adCoRD) and Leber Congenital Amaurosis (adLCA). This mutation results in a frameshift and premature truncation of the expected product. (J:211011)

Generation of the Crx^tm1Smgc, Crx^tm1.1Smgc and Crx^tm2.1Smgc alleles

Expression

In Mice Carrying this Mutation:	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: 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: 1 reference(s)