Ercc2^tm2Jmch
Targeted Allele Detail

Summary

• Symbol: Ercc2^tm2Jmch
• Name: excision repair cross-complementing rodent repair deficiency, complementation group 2; targeted mutation 2, James R Mitchell
• MGI ID: MGI:3696121
• Synonyms: Xpd^G602D, Xpd^+XPCS
• Gene: Ercc2 Location: Chr7:19115942-19129619 bp, + strand Genetic Position: Chr7, 9.62 cM
• Alliance: Ercc2^tm2Jmch page

Cutaneous phenotypes of Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^{tm2(ERCC2)Jhjh} and Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^tm2Jmch mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:116054
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A G602D point mutation was inserted with a neo in the 3' UTR. The neo was not removed from this allele. RT-PCR detected about a 5-fold reduction in expression compared to the wild-type allele. (J:116054)

Expression

In Structures Affected by this Mutation:

1 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:116054 Andressoo JO, et al., Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol. 2006 Oct;4(10):e322
• All: 1 reference(s)