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Targeted Allele Detail
Symbol: Crxtm1Smgc
Name: cone-rod homeobox; targeted mutation 1, Shiming Chen
MGI ID: MGI:5699593
Synonyms: CrxE168d2neo
Gene: Crx  Location: Chr7:15865947-15879955 bp, - strand  Genetic Position: Chr7, 8.6 cM
Rod outer segment abnormalities in Crxtm1.1Smgc/Crx+ and Crxtm1Smgc/Crx+ mice

Show the 2 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:    Intragenic deletion
Mutation detailsExon 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 Crxtm1Smgc, Crxtm1.1Smgc and Crxtm2.1Smgc alleles
View phenotypes and curated references for all genotypes (concatenated display).
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
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)

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)
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last database update
MGI 6.15
The Jackson Laboratory