Mouse Genome Informatics
cx
    Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Xpatm1Hvs/Xpatm1Hvs

involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• incomplete penetrance
• surviving mice dead by 22 days of age

behavior/neurological

growth/size/body
• develop extreme cachexia by 2-3 weeks of age
• exhibit a retarded but steady growth until 1.5 weeks, but fail to gain weight after 2-3 weeks

skeleton

adipose tissue
• complete absence of body fat, including subcutaneous fat

cellular

integument
• severe dilation of hair follicles
• excessive epidermal hyperkeratosis

Mouse Models of Human Disease
OMIM IDRef(s)
Trichothiodystrophy, Photosensitive; TTDP 601675 J:76608
Xeroderma Pigmentosum, Complementation Group A; XPA 278700 J:76608