Crxtm1Smgc
Targeted Allele Detail
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Symbol: |
Crxtm1Smgc |
Name: |
cone-rod homeobox; targeted mutation 1, Shiming Chen |
MGI ID: |
MGI:5699593 |
Synonyms: |
CrxE168d2neo |
Gene: |
Crx Location: Chr7:15599872-15613880 bp, - strand Genetic Position: Chr7, 8.6 cM
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Alliance: |
Crxtm1Smgc page
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Rod outer segment abnormalities in Crxtm1.1Smgc/Crx+ and Crxtm1Smgc/Crx+ mice
Show the 2 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:211011
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Parent Cell Line: |
SCC10 (ES Cell)
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Strain of Origin: |
129X1/SvJ
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Allele Type: |
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Targeted (Humanized sequence) |
Mutation: |
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Intragenic deletion
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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)
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Generation of the Crxtm1Smgc, Crxtm1.1Smgc and Crxtm2.1Smgc alleles |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Crx Mutation: |
26 strains or lines available
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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) |
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