Ercc6^tm1Gvh
Targeted Allele Detail

Summary

• Symbol: Ercc6^tm1Gvh
• Name: excision repair cross-complementing rodent repair deficiency, complementation group 6; targeted mutation 1, Gijsbertus van der Horst
• MGI ID: MGI:1932102
• Synonyms: Csb^-, CSB-, Csb^m
• Gene: Ercc6 Location: Chr14:32235478-32302947 bp, + strand Genetic Position: Chr14, 19.4 cM
• Alliance: Ercc6^tm1Gvh page

Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpa^tm1Hvs/Xpa^tm1Hvs mice display postnatal growth retardation

Show the 11 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:40211
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Insertion of a floxed neomycin resistance cassette into exon 5 near a site corresponding to a known human mutation disrupted the Ercc6 gene. RT-PCR and Western blot analyses of E13.5 fibroblasts from homozygous mutant animals did not detect wild-type transcript or wild-type protein, but indicate that the mutant allele expresses mRNA at low levels. (J:40211)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ercc6^tm1Gvh

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 Ercc6 Mutation: 78 strains or lines available

References

• Original: J:40211 van der Horst GT, et al., Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell. 1997 May 2;89(3):425-35
• All: 55 reference(s)