|
|
| 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 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 (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
37 reference(s)
|
|
Analysis Tools
