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Phenotypes Associated with This Genotype
Genotype
MGI:3043699
Allelic
Composition
Ercc5tm1Shm/Ercc5tm1Shm
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc5tm1Shm mutation (1 available); any Ercc5 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• at P16 - P21 in homozygous mutants the intestines appear relatively small and gas bubbles are present within the intestines
• at P5 - P21 the small intestines from homozygous mutants appear very immature with a reduction in the number and size of villi
• at P0 the small intestines from homozygous mutants are smaller in diameter compared to wild-type mice
• at P16 - P21 the stomach in homozygous mutants is relatively small
• the small intestinal abnormalities appear to cause insufficient digestion and severe starvation atrophy

growth/size/body
• homozygous mice exhibit severe growth retardation even in the absence of competition from wild-type littermates
• at P16 - P21 abnormalities are seen in most organs excluding the brain consistent with the miniature size of the homozygous mutants with the average weight of most organs being 50% that of wild-type littermates

hematopoietic system
• at P16 the average spleen weight per body weight of homozygous mutants is 28% that of wild-type mice

homeostasis/metabolism
• primary embryonic fibroblasts from homozygous mutants are hypersensitive to UV irradiation compared to fibroblasts from wild-type mice
• UV induced DNA lesions are not removed in homozygous mutant cel

immune system
• at P16 the average spleen weight per body weight of homozygous mutants is 28% that of wild-type mice

liver/biliary system
• liver cells form homozygous mutants are much smaller than those in heterozygous mice

integument
• primary embryonic fibroblasts from homozygous mutants are hypersensitive to UV irradiation compared to fibroblasts from wild-type mice
• UV induced DNA lesions are not removed in homozygous mutant cel

Mouse Models of Human Disease
OMIM ID Ref(s)
Xeroderma Pigmentosum, Complementation Group G; XPG 278780 J:53756


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory