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Phenotypes Associated with This Genotype
Genotype
MGI:3696354
Allelic
Composition
Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc2tm3Jhjh mutation (0 available); any Ercc2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean life span is 546 days compared to 641 days in wild-type mice

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

growth/size/body
• 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

neoplasm
• 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
• progressive loss of germinal epithelium

nervous system
N
• no signs of Purkinje cell loss in the cerebellum in mice up to 19 months of age

hematopoietic system
N
• mice are not anemic

endocrine/exocrine glands
• progressive loss of germinal epithelium

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
• 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
DO ID OMIM ID(s) Ref(s)
xeroderma pigmentosum group D DOID:0110845 OMIM:278730
J:112689


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory