Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

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.

Germline Transmission:	Earliest citation of germline transmission: J:38645
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129/Sv

Allele Type:    Targeted (Null/knockout) 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(s)

List all tumor models in MMHCdb carrying Xpctm1Ecf

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

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)