Ercc2^tm1Jhjh
Targeted Allele Detail

Summary

• Symbol: Ercc2^tm1Jhjh
• Name: excision repair cross-complementing rodent repair deficiency, complementation group 2; targeted mutation 1, Jan H J Hoeijmakers
• MGI ID: MGI:2183947
• Synonyms: TTD-, XPD⁰
• Gene: Ercc2 Location: Chr7:19115942-19129619 bp, + strand Genetic Position: Chr7, 9.62 cM
• Alliance: Ercc2^tm1Jhjh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:45017
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: All of exons 17 through 21 and a portion of exon 22 were replaced by a cassette containing neo and hprt transgenes. The insertion is upstream of sequence encoding the DNA helicase domains 4 through 6 and the putative DNA-binding domain. The potential excision of the cassette generates a frameshift mutation via the splicing of exons 16 and 23. The targeting vector was designed such that it would not interfere with the Klc3 locus on the antisense strand. (J:45017)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ercc2 Mutation: 23 strains or lines available

References

• Original: J:45017 de Boer J, et al., Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res. 1998 Jan 1;58(1):89-94
• All: 7 reference(s)