All Phenotypes Ercc8<tm1Jhjh> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh	B6J.129P2-Ercc8^tm1Jhjh	MGI:5697079
hm2	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh	involves: 129P2/OlaHsd * C57BL/6J	MGI:2663252
cx3	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh Xpc^tm1Ecf/Xpc^tm1Ecf	involves: 129P2/OlaHsd * C57BL/6J	MGI:2663264
cx4	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh Xpc^tm1Ecf/Xpc⁺	involves: 129P2/OlaHsd * C57BL/6J	MGI:2663268

Allelic Composition	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh
Genetic Background	B6J.129P2-Ercc8^tm1Jhjh

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc8^tm1Jhjh mutation (0 available); any Ercc8 mutation (33 available)

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

hearing/vestibular/ear

cochlear inner hair cell degeneration ( J:219993 )

• gradient of inner hair cell loss from base to apex at 16 weeks of age

cochlear outer hair cell degeneration ( J:219993 )

• complete loss of outer hair cells in the basal and middle turns of the cochlea at 16 weeks of age

• outer hair cells are more severely affected than inner hair cells

increased or absent threshold for auditory brainstem response ( J:219993 )

• mice show an increase in hearing thresholds at more than 8kHz at 13 weeks of age and thresholds remain elevated at 16 weeks

• auditory shifts are more more pronounced at 24 and 32 kHz than at 16 and 8 kHz

decreased distortion product otoacoustic emission amplitude ( J:219993 )

• DPOAEs are reduced in amplitude at 12 and 16 kHz or absent at 24 kHz by 16 weeks of age

impaired hearing ( J:219993 )

• mice show progressive hearing loss

nervous system

cochlear inner hair cell degeneration ( J:219993 )

• gradient of inner hair cell loss from base to apex at 16 weeks of age

cochlear outer hair cell degeneration ( J:219993 )

• complete loss of outer hair cells in the basal and middle turns of the cochlea at 16 weeks of age

• outer hair cells are more severely affected than inner hair cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cockayne syndrome		DOID:2962		J:219993

♀	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 )

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

Allelic Composition	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh Xpc^tm1Ecf/Xpc^tm1Ecf
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc8^tm1Jhjh mutation (0 available); any Ercc8 mutation (33 available)
Xpc^tm1Ecf mutation (1 available); any Xpc mutation (34 available)

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

mortality/aging

premature death ( J:74959 )

• animals within a month of birth

growth/size/body

decreased body size ( J:74959 )

• severe runting

Allelic Composition	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh Xpc^tm1Ecf/Xpc⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

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

neoplasm

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

• mutants develop skin tumors after chronic exposure to UVB radiation at an accelerated rate compared to single Ercc8 homozygotes

• mutants exposed to UVB radiation also develop eye tumors, most being hemangiosarcomas

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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