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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ercc5tm1Shm
targeted mutation 1, Tadahiro Shiomi
MGI:2182793
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ercc5tm1Shm/Ercc5tm1Shm involves: 129S2/SvPas * C57BL/6J MGI:3043699
hm2
Ercc5tm1Shm/Ercc5tm1Shm Not Specified MGI:3043697


Genotype
MGI:3043699
hm1
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 (55 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
DO ID OMIM ID(s) Ref(s)
xeroderma pigmentosum group G DOID:0110849 OMIM:278780
J:53756




Genotype
MGI:3043697
hm2
Allelic
Composition
Ercc5tm1Shm/Ercc5tm1Shm
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc5tm1Shm mutation (1 available); any Ercc5 mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous mutants die by P23 before weaning
• the average lifespan for homozygous mutants is 9 - 10 days shorter than that of Ercc5tm3Shm homozygotes

digestive/alimentary system
• undeveloped small intestines are seen in homozygous mutants

growth/size/body
• homozygous mice exhibit growth failure
• the average body weight for homozygous mutants is slightly less than that of Ercc5tm3Shm homozygotes

homeostasis/metabolism
• cells from homozygous mutants are more sensitive to UV light than cells from wild-type mice
• UV induced DNA lesions are not removed in homozygous mutant cell

integument
• cells from homozygous mutants are more sensitive to UV light than cells from wild-type mice
• UV induced DNA lesions are not removed in homozygous mutant cell





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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
03/12/2024
MGI 6.23
The Jackson Laboratory