Phenotypes Associated with This Genotype

Genotype
MGI:3615437

• Allelic Composition: Polh^tm1.1Rak/Polh^tm1.1Rak
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

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

hearing/vestibular/ear

abnormal ear pigmentation ( J:105034 )

• ears darken after UV-irradiation due to melanocyte accumulation

pigmentation

abnormal ear pigmentation ( J:105034 )

• ears darken after UV-irradiation due to melanocyte accumulation

neoplasm

increased skin tumor incidence ( J:105034 )

• increased incidence after UV-irradiation

increased squamous cell carcinoma incidence ( J:105034 )

• increased incidence of squamous cell carcinomas after UV-irradiation

craniofacial

abnormal ear pigmentation ( J:105034 )

• ears darken after UV-irradiation due to melanocyte accumulation

integument

abnormal ear pigmentation ( J:105034 )

• ears darken after UV-irradiation due to melanocyte accumulation

increased sensitivity to skin irradiation ( J:105034 )

increased skin tumor incidence ( J:105034 )

• increased incidence after UV-irradiation

growth/size/body

abnormal ear pigmentation ( J:105034 )

• ears darken after UV-irradiation due to melanocyte accumulation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
xeroderma pigmentosum variant type		DOID:0110847	OMIM:278750	J:105034