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Allele : Ercc2<tm2(ERCC2)Jhjh> excision repair cross-complementing rodent repair deficiency, complementation group 2; targeted mutation 2, Jan H J Hoeijmakers

Primary Identifier  MGI:2183949 Allele Type  Targeted
Gene  Ercc2 Transmission  Germline
Strain of Origin  129P2/OlaHsd Is Recombinase  false
Is Wild Type  false
molecularNote  To recapitulate the photosensitive form of trichothiodystrophy, part of exon 22 and all of exon 23 were replaced with a fragment of human cDNA, containing an arginine to tryptophan missense mutation. Northern blot analysis of total testicular RNA showed overexpression of the mutant transcript. Protein level analysis was not possible due to the lack of an antibody that detects the hybrid protein.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Xpd<m>,
  • Xpd<TTD>,
  • TTD,
  • Xpd<TTD>,
  • XPD<R722W>,
  • Xpd<m>,
  • TTD,
  • XPD<R722W>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

22 Publication categories