Mouse Genome Informatics
ht
    Ercc2tm1Jhjh/Ercc2tm2(ERCC2)Jhjh
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
• most dead by 1 year

tumorigenesis
• increased DMBA-induced skin cancer susceptibility
• increased UV- and DMBA-induced skin cancer susceptibility
• increased UV-induced skin cancer susceptibility

adipose tissue
• adipose tissue hypoplasia

behavior/neurological

growth/size
• adipose tissue hypoplasia
• progressive weight loss and cachexia as death neared
• evident from birth

hematopoietic system
• decreased RBC count
• decreased hemoglobin concentration

cellular
• increased sensitivity of MEFs to UV irradiation

homeostasis/metabolism
• increased DMBA-induced skin cancer susceptibility

integument
• progressive hair loss, beginning at head ~P19
• by 4 weeks of age, most hair absent, except a small band of fur at feet and tail
• new coat grew with second cycle of hair growth, but progressive hair loss again followed
• abnormal cuticle structure
• follicular plugging and dilation
• ichthyosis, particularly in the neck region
• increased UV- and DMBA-induced skin cancer susceptibility
• ichthyosis, particularly in the neck region

Mouse Models of Human Disease
OMIM IDRef(s)
Trichothiodystrophy, Photosensitive; TTDP 601675 J:48256