Allele/Variant

Ercc2tm2(ERCC2)Jhjh

Species
Mus musculus
Symbol
Ercc2tm2(ERCC2)Jhjh
Category
allele
Allele of gene
Ercc2
Transgenic Constructs
None
Synonyms
  • TTD
  • Xpdm
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations