Phenotypes Associated with This Genotype

Genotype
MGI:3665144

• Allelic Composition: Xpc^tm1Brd/Xpc^tm1Brd
• Genetic Background: involves: 129S7/SvEvBrd * C57BL

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

neoplasm

increased incidence of tumors by UV-induction ( J:28708 )

• highly susceptible to ultraviolet-induced carcinogenesis; predominantly form squamous cell carcinomas around the ears

• do not exhibit an increased susceptibility to spontaneous tumor generation at one year of age

vision/eye

photosensitivity ( J:28708 )

• ultraviolet irradiation produces frequent eye abnormalities including severe keratitis and corneal ulceration which are not found in controls

cellular

abnormal cell physiology ( J:28708 )

• MEFs show a significant decrease in the ability to form colonies compared to wild-type on exposure to ultraviolet light

homeostasis/metabolism

photosensitivity ( J:28708 )

• ultraviolet irradiation produces frequent eye abnormalities including severe keratitis and corneal ulceration which are not found in controls

integument

increased sensitivity to skin irradiation ( J:28708 )

• ultraviolet-irradiated mutants show marked hyperplasia of the epidermis with focal areas of hyperkeratosis and varying degrees of dysplasia, acantholysis and/or dyskeratosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
xeroderma pigmentosum group C		DOID:0110844	OMIM:278720	J:28708