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Observation 111

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Species Mus musculus
Strain R722W/R722W
Reference Lifespan
Lifespan Change
Lifespan Measure
Lifespan Effect decreased
Significance significant
Citation de Boer J, Andressoo JO, de Wit J, Huijmans J, Beems RB, van Steeg H, Weeda G, van der Horst GT, van Leeuwen W, Themmen AP, Mera. (2002). Premature aging in mice deficient in DNA repair and transcription.. Science 296: 1276-9. [pubmed]

Homozygous mutation of XPD results in an extreme shortening of life-span (mean life-span = 7 months) relative to wild type (mean life-span > 24 months).

Other phenotypes: The shortened life span of the mutant mouse is accompanied by symptoms of premature aging including including osteoporosis, early graying, cachexia, and infertility [pubmed]. Mouse model for the brittle hair disorder trichothiodystrophy (TTD). Phenotypes include brittle hair, UV sensitivity, and developmental defects [pubmed].

Gene Interventions:

Symbol Allele Allele Type NCBI Gene ID More
XPD non-null recessive