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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Polhtm1.1Rak
targeted mutation 1.1, Raju Kucherlapati
MGI:3614412
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Polhtm1.1Rak/Polhtm1.1Rak involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 MGI:3615437
ht2
 		Polhtm1.1Rak/Polh+ involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 MGI:3615446


Genotype
MGI:3615437
hm1
Allelic
Composition		 Polhtm1.1Rak/Polhtm1.1Rak
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Polhtm1.1Rak mutation (1 available); any Polh mutation (38 available)
♀ 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 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




Genotype
MGI:3615446
ht2
Allelic
Composition		 Polhtm1.1Rak/Polh+
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Polhtm1.1Rak mutation (1 available); any Polh mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased skin tumor incidence ( J:105034 )
• increased susceptibility over wild-type to develop skin tumors
increased incidence of tumors by UV-induction ( J:105034 )
• increased incidence several months after UV-irradiation

integument
increased skin tumor incidence ( J:105034 )
• increased susceptibility over wild-type to develop skin tumors




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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Send questions and comments to User Support. 		last database update
05/14/2024
MGI 6.23 		The Jackson Laboratory