Phenotypes Associated with This Genotype

Genotype
MGI:2663252

• Allelic Composition: Ercc8^tm1Jhjh/Ercc8^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

Microglia activation in the white matter in Ercc2, Ercc6, and Ercc8 mutants

neoplasm

increased incidence of tumors by UV-induction ( J:74959 )

• increased incidence of skin and eye tumors after chronic exposure to UVB radiation

• skin and eye tumors are typical squamous cell cancers

vision/eye

photophobia ( J:74959 )

• mutants attempt to avoid light exposure by keeping eyes closed indicating photophobia

retina photoreceptor degeneration ( J:74959 )

• progressive photoreceptor degeneration

nervous system

microgliosis ( J:179808 )

• in the white matter

astrocytosis ( J:179808 )

• in the white matter

retina photoreceptor degeneration ( J:74959 )

• progressive photoreceptor degeneration

cellular

increased cellular sensitivity to ultraviolet irradiation ( J:74959 )

• mouse embryonic fibroblasts are ultraviolet-sensitive but show normal unscheduled DNA synthesis

abnormal DNA repair ( J:74959 )

• mouse embryonic fibroblasts fail to resume RNA synthesis after UV-exposure and are unable to remove cyclobutane pyrimidine dimmers photolesions form the transcribed strand of active genes, indicating a defect in transcription-coupled repair (TCR)

homeostasis/metabolism

photophobia ( J:74959 )

• mutants attempt to avoid light exposure by keeping eyes closed indicating photophobia

abnormal DNA repair ( J:74959 )

• mouse embryonic fibroblasts fail to resume RNA synthesis after UV-exposure and are unable to remove cyclobutane pyrimidine dimmers photolesions form the transcribed strand of active genes, indicating a defect in transcription-coupled repair (TCR)

integument

increased sensitivity to skin irradiation ( J:74959 )

• mutants show UV-sensitivity; mutants develop severe erythema of the skin and ears and irritation of the eyelids after UVB light exposure for 5 consecutive days

skin photosensitivity ( J:74959 )

• mutants develop erythrema of the skin, ears, and eyelids after UVB exposure

hematopoietic system

microgliosis ( J:179808 )

• in the white matter

immune system

microgliosis ( J:179808 )

• in the white matter

behavior/neurological

photophobia ( J:74959 )

• mutants attempt to avoid light exposure by keeping eyes closed indicating photophobia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cockayne syndrome		DOID:2962		J:74959