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. (J:48256)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
12
19

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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