Phenotypes associated with this allele

• Allele Symbol: Ercc5^tm1Shm
• Allele Name: targeted mutation 1, Tadahiro Shiomi
• Allele ID: MGI:2182793
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ercc5^tm1Shm/Ercc5^tm1Shm	involves: 129S2/SvPas * C57BL/6J	MGI:3043699
hm2	Ercc5^tm1Shm/Ercc5^tm1Shm	Not Specified	MGI:3043697

Genotype
MGI:3043699

hm1

• Allelic Composition: Ercc5^tm1Shm/Ercc5^tm1Shm
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

digestive/alimentary system

abnormal intestine morphology ( J:53756 )

• at P16 - P21 in homozygous mutants the intestines appear relatively small and gas bubbles are present within the intestines

delayed intestine development ( J:53756 )

• at P5 - P21 the small intestines from homozygous mutants appear very immature with a reduction in the number and size of villi

abnormal small intestine morphology ( J:53756 )

• at P0 the small intestines from homozygous mutants are smaller in diameter compared to wild-type mice

small stomach ( J:53756 )

• at P16 - P21 the stomach in homozygous mutants is relatively small

abnormal digestion ( J:53756 )

• the small intestinal abnormalities appear to cause insufficient digestion and severe starvation atrophy

growth/size/body

postnatal growth retardation ( J:53756 )

• 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

decreased spleen weight ( J:53756 )

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

homeostasis/metabolism

phototoxicity ( J:53756 )

• 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

decreased spleen weight ( J:53756 )

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

liver/biliary system

abnormal hepatocyte morphology ( J:53756 )

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

small liver ( J:53756 )

integument

phototoxicity ( J:53756 )

• 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: Ercc5^tm1Shm/Ercc5^tm1Shm
• Genetic Background: Not Specified

mortality/aging

postnatal lethality, complete penetrance ( J:89911 )

• homozygous mutants die by P23 before weaning

• the average lifespan for homozygous mutants is 9 - 10 days shorter than that of Ercc5^tm3Shm homozygotes

digestive/alimentary system

abnormal small intestine morphology ( J:89911 )

• undeveloped small intestines are seen in homozygous mutants

growth/size/body

postnatal growth retardation ( J:89911 )

• homozygous mice exhibit growth failure

• the average body weight for homozygous mutants is slightly less than that of Ercc5^tm3Shm homozygotes

homeostasis/metabolism

phototoxicity ( J:89911 )

• 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

phototoxicity ( J:89911 )

• 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