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Ercc4tm1Fwa
Targeted Allele Detail
Summary
Symbol: Ercc4tm1Fwa
Name: excision repair cross-complementing rodent repair deficiency, complementation group 4; targeted mutation 1, Frederick W Alt
MGI ID: MGI:3028660
Synonyms: XPFm
Gene: Ercc4  Location: Chr16:12927548-12968481 bp, + strand  Genetic Position: Chr16, 8.93 cM
Alliance: Ercc4tm1Fwa page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:87684
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsThe endogenous exon 8 was replaced with a mutant version containing a nonsense mutation at codon 445. A single loxP site remained in intron 7 after the excision of a floxed neo cassette. Though the mutation was expected to generate a truncated transcript, message was undetected by RT-PCR analysis of homozygous mutant MEFs. (J:87684)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 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 Ercc4 Mutation:  94 strains or lines available
References
Original:  J:87684 Tian M, et al., Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF. Mol Cell Biol. 2004 Feb;24(3):1200-5
All:  6 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
03/19/2024
MGI 6.23
The Jackson Laboratory