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Xpctm1Ecf
Targeted Allele Detail
Nomenclature
Symbol: Xpctm1Ecf
Name: xeroderma pigmentosum, complementation group C; targeted mutation 1, Errol C Friedberg
MGI ID: MGI:1859840
Synonyms: Xpc-
Gene: Xpc  Location: Chr6:91489305-91515884 bp, - strand  Genetic Position: Chr6, 40.55 cM, cytoband D
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 for all genotypes (concatenated display).
Disease models
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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:  7 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:  38 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/25/2015
MGI 5.21
The Jackson Laboratory