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Xpctm1Ecf
Targeted Allele Detail
Summary
Symbol: Xpctm1Ecf
Name: xeroderma pigmentosum, complementation group C; targeted mutation 1, Errol C Friedberg
MGI ID: MGI:1859840
Synonyms: Xpc-
Gene: Xpc  Location: Chr6:91466287-91492870 bp, - strand  Genetic Position: Chr6, 40.55 cM, cytoband D
Alliance: Xpctm1Ecf page
Lungs of Xpctm1Ecf/Xpctm1Ecf mice show a range of lesions

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:38645
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced exon 10 of the Xpc gene, and portions of the flanking introns. The authors predict that homozygous mutant animals would produce a truncated polypeptide with 27 missense amino acids in place of the last 300 C-terminal amino acids. Northern analysis of primary MEF cells from homozygous mutant embryos detected two anomalous transcripts using an exon 7-10 probe, and no transcript using an exon 11-15 probe. (J:38645)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 4 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Xpctm1Ecf
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Xpc Mutation:  34 strains or lines available
References
Original:  J:38645 Cheo DL, et al., Characterization of defective nucleotide excision repair in XPC mutant mice. Mutat Res. 1997 Mar 4;374(1):1-9
All:  51 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
11/12/2024
MGI 6.24
The Jackson Laboratory