Mouse Genome Informatics
hm
    Ercc6tm1Gvh/Ercc6tm1Gvh
involves: 129P2/OlaHsd * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size
• small but highly significant reduction in body weights of males at 10 weeks of age that is less pronounced in females

behavior/neurological
• have more difficulties remaining on a rotating cylinder in a Rotarod task
• have more difficulties remaining on a rotating cylinder in a Rotarod task
• 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
• some start to develop circling behavior after 6 months of age, however do not develop tremors or limb ataxia

cellular
• 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
• fibroblasts display UV sensitivity

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

homeostasis/metabolism
• 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
• 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

vision/eye
• 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
• 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

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

Mouse Models of Human Disease
OMIM IDRef(s)
Cockayne Syndrome B; CSB 133540 J:40211