Phenotypes Associated with This Genotype

Genotype
MGI:3586560

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh
• Genetic Background: involves: 129P2/OlaHsd * FVB

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

growth/size/body

decreased body weight ( J:40211 )

• small but highly significant reduction in body weights of males at 10 weeks of age that is less pronounced in females

behavior/neurological

photophobia ( J:40211 )

• at high doses of UV-B light, develop photophobia (mice avoid contact with daylight by keeping their eyes closed) that disappears after a few days of treatment

impaired balance ( J:40211 )

• have more difficulties remaining on a rotating cylinder in a Rotarod task

impaired coordination ( J:40211 )

• have more difficulties remaining on a rotating cylinder in a Rotarod task

abnormal locomotor behavior ( J:40211 )

• significantly less active, especially in the first 30 s of an open-field exploratory test, indicating that more time to adapt to a new environment is required

circling ( J:40211 )

• some start to develop circling behavior after 6 months of age, however do not develop tremors or limb ataxia

cellular

abnormal cell physiology ( J:40211 )

• fibroblasts display UV sensitivity, defective resumption of transcription after UV exposure, and a complete loss of transcription-coupled repair of cyclobutane pyrimidine dimers in the transcribed strand of an active gene

increased cellular sensitivity to ultraviolet irradiation ( J:40211 )

• fibroblasts display UV sensitivity

neoplasm

increased incidence of induced tumors ( J:40211 )

• increased incidence of skin and eye tumors after exposure to UV irradiation and of skin tumors after DMBA exposure

homeostasis/metabolism

photosensitivity ( J:40211 )

• chronic exposure to low doses of UV-B resulted in redness and scaling of skin, pruritus, acanthosis, parakeratosis, corneal opacities, and severe ulceration of the eyes

photophobia ( J:40211 )

• at high doses of UV-B light, develop photophobia (mice avoid contact with daylight by keeping their eyes closed) that disappears after a few days of treatment

vision/eye

photosensitivity ( J:40211 )

• chronic exposure to low doses of UV-B resulted in redness and scaling of skin, pruritus, acanthosis, parakeratosis, corneal opacities, and severe ulceration of the eyes

photophobia ( J:40211 )

• at high doses of UV-B light, develop photophobia (mice avoid contact with daylight by keeping their eyes closed) that disappears after a few days of treatment

integument

skin photosensitivity ( J:40211 )

• develop severe erythema and epidermal hyperplasia after exposure of dorsal skin to UV-B light

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cockayne syndrome		DOID:2962		J:40211