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Crxtm1Smgc
Targeted Allele Detail
Nomenclature
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.

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 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
Phenotypes
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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
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)

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
05/26/2020
MGI 6.15
The Jackson Laboratory