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Phenotypes Associated with This Genotype
Genotype
MGI:3043597
Allelic
Composition
Ercc5tm3Shm/Ercc5tm3Shm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc5tm3Shm mutation (0 available); any Ercc5 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most (22 out of 24) of the homozygous mutants die within 30 days of birth with none surviving beyond P139 (J:89911)
• the average lifespan for homozygous mutants is 9 - 10 days longer than that of Ercc5tm1Shm homozygotes (J:89911)
• most (22 out of 24) of the homozygous mutants die within 30 days of birth with none surviving beyond P139 (J:89911)
• the average lifespan for homozygous mutants is 9 - 10 days longer than that of Ercc5tm1Shm homozygotes (J:89911)

digestive/alimentary system
• undeveloped small intestines are seen in homozygous mutants (J:89911)
• undeveloped small intestines are seen in homozygous mutants (J:89911)

growth/size/body
• all homozygous mice exhibit growth failure (J:89911)
• the average body weight for homozygous mutants is slightly greater than that of Ercc5tm1Shm homozygotes (J:89911)
• all homozygous mice exhibit growth failure (J:89911)
• the average body weight for homozygous mutants is slightly greater than that of Ercc5tm1Shm homozygotes (J:89911)

homeostasis/metabolism
• cells from homozygous mutants are more sensitive to UV light than cells from wild-type mice and as sensitive as cells from Ercc5tm1Shm (J:89911)
• UV induced DNA lesions are not removed in homozygous mutant cell (J:89911)
• cells from homozygous mutants are more sensitive to UV light than cells from wild-type mice and as sensitive as cells from Ercc5tm1Shm (J:89911)
• UV induced DNA lesions are not removed in homozygous mutant cell (J:89911)

integument
• cells from homozygous mutants are more sensitive to UV light than cells from wild-type mice and as sensitive as cells from Ercc5tm1Shm (J:89911)
• UV induced DNA lesions are not removed in homozygous mutant cell (J:89911)
• cells from homozygous mutants are more sensitive to UV light than cells from wild-type mice and as sensitive as cells from Ercc5tm1Shm (J:89911)
• UV induced DNA lesions are not removed in homozygous mutant cell (J:89911)

Mouse Models of Human Disease
OMIM ID Ref(s)
Xeroderma Pigmentosum, Complementation Group G; XPG 278780 J:89911


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory