Mouse Genome Informatics
hm
    Ercc2tm3Jhjh/Ercc2tm3Jhjh
involves: 129P2/OlaHsd * C57BL/6 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mean life span is 546 days compared to 641 days in wild-type mice

cellular
• following UV exposure DNA incision activity is increased and unscheduled DNA synthesis is decreased compared to wild-type MEFs
• MEFs are hypersensitve to UV irradiation

growth/size
• seen in females from 12 months onward and in most males (3 of 4) surviving to 20 months of age
• small but significant developmental delay is seen in females between P5 and about 2 to 4 weeks of age and in males between P5 and about 2 months of age

tumorigenesis
• within 17 weeks after the start of UV-B exposure (100 J/m2/day) skin and/or eye tumors are seen in 10 of 10 mice but not in any Xpatm1Hvs homozygotes or in any wild-type mice
• earlier onset of spontaneous tumors

vision/eye
• develops after low level UV-B exposure (100 J/m2/day) in 4 of 10 mice at 10 weeks and 10 of 10 mice at 11 weeks after start of exposure

behavior/neurological
• males are significantly less active within the first minute of an open field test
• spastic and uncoordinated movement of hindlimbs is seen in some males, but not in females, at between P5 and 2 months of age during tail suspension tests
• however, in mice up to 7 months of age neuromotor coordination, gait, and learning capacity are all similar to wild-type mice

reproductive system
N
• mice are fertile at least through 6 months of age (J:112689)
• progressive loss of germinal epithelium (J:112689)

nervous system
N
• no signs of Purkinje cell loss in the cerebellum in mice up to 19 months of age (J:112689)

hematopoietic system
N
• mice are not anemic (J:112689)

endocrine/exocrine glands
• progressive loss of germinal epithelium (J:112689)

homeostasis/metabolism
• following UV exposure DNA incision activity is increased and unscheduled DNA synthesis is decreased compared to wild-type MEFs

integument
N
• mice do not display brittle hair or ichthyotic skin (J:112689)
• seen within 1 week after start of exposure to 200 J/m2/day of UV-B
• with exposure to 200 J/m2/day of UV-B for 4 days mice develop erythema within 5 days after the start of exposure
• with exposure to 100 J/m2/day of UV-B for 4 days mice develop erythema by 7 weeks after the start of exposure, unlike Xpatm1Hvs homozygotes
• with exposure to 200 J/m2/day of UV-B for 4 days mice develop erythema within 5 days and pronounced epidermal hyperplasia with acanthosis and hyperemia within 1 week after the start of exposure

Mouse Models of Human Disease
OMIM IDRef(s)
Xeroderma Pigmentosum, Complementation Group D; XPD 278730 J:112689