Phenotypes Associated with This Genotype

Genotype
MGI:3043597

• Allelic Composition: Ercc5^tm3Shm/Ercc5^tm3Shm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

premature death ( J:89911 )

• most (22 out of 24) of the homozygous mutants die within 30 days of birth with none surviving beyond P139

• the average lifespan for homozygous mutants is 9 - 10 days longer than that of Ercc5^tm1Shm 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 )

• all homozygous mice exhibit growth failure

• the average body weight for homozygous mutants is slightly greater than that of Ercc5^tm1Shm homozygotes

homeostasis/metabolism

phototoxicity ( J:89911 )

• cells from homozygous mutants are more sensitive to UV light than cells from wild-type mice and as sensitive as cells from Ercc5^tm1Shm

• 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 and as sensitive as cells from Ercc5^tm1Shm

• UV induced DNA lesions are not removed in homozygous mutant cell

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
xeroderma pigmentosum group G		DOID:0110849	OMIM:278780	J:89911