Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
polymerase (DNA directed), eta (RAD 30 related)
Synonyms:
RAD30A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Polh mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Polh by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Xeroderma Pigmentosum Variant
Hyperpigmentation of the skin, Basal cell carcinoma, Hypopigmentation of the skin, Squamous cell ... ORPHA:90342
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750

The table below shows human diseases predicted to be associated to Polh by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Squa... OMIM:613736
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hyperkeratosis Lenticularis Perstans
Pruritus, Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Verrucae, Recurrent skin infections, ... ORPHA:302
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Xeroderma Pigmentosum Variant
Hyperpigmentation of the skin, Basal cell carcinoma, Hypopigmentation of the skin, Squamous cell ... ORPHA:90342
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Pilomatrixoma
Pilomatrixoma OMIM:132600
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Squamous cell carcinoma OMIM:613988
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Porokeratosis
Abnormality of skin pigmentation, Pruritus, Squamous cell carcinoma of the skin ORPHA:79358
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Apocrine hidrocystoma, Basal cell carcinoma, Poroma OMIM:224750
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Anal canal squamous carcinoma, Verrucae, Recurrent bacterial skin infections, ... ORPHA:217390
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Ichthyosis, Hystrix-Like, With Deafness
Sensorineural hearing impairment, Erythroderma, Squamous cell carcinoma OMIM:602540
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neoplasm of the lung, Myelodysplasia, Multiple myeloma, Hepatocellu... ORPHA:158057
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Punctate Palmoplantar Keratoderma Type 1
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... ORPHA:79501
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Squamous cell carcinoma ORPHA:542592
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Basal cell carcinoma, Squamous cell carcinoma of ... ORPHA:79434
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Neoplasm of the skin, Pustule, Chronic furunculosis, Recurrent cutane... ORPHA:678
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Bloom Syndrome
Spotty hypopigmentation, Leukemia, Lymphoma, Spotty hyperpigmentation, Malar rash, Squamous cell ... OMIM:210900
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Defective B... OMIM:617765
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Werner Syndrome
Cutaneous melanoma, Ovarian neoplasm, Abnormality of retinal pigmentation, Thyroid carcinoma, Men... ORPHA:902
Chromomycosis
Multiple cutaneous malignancies, Pruritus, Hypopigmented skin patches, Squamous cell carcinoma ORPHA:182
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Fanconi Anemia, Complementation Group P
Cafe-au-lait spot, Squamous cell carcinoma, Vitiligo, Hearing impairment OMIM:613951
Oculocutaneous Albinism Type 2
Cutaneous melanoma, Absent skin pigmentation, Abnormality of retinal pigmentation, Blue irides, H... ORPHA:79432
Oculocutaneous Albinism
Cutaneous melanoma, Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, Whit... ORPHA:55
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmen... ORPHA:79431
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Trichothiodystrophy 1, Photosensitive
Erythroderma, Freckling, Basal cell carcinoma, Squamous cell carcinoma, Protruding ear OMIM:601675
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation o... OMIM:278720
Rothmund-Thomson Syndrome
Neoplasm of the skin, Myelodysplasia, Leukemia, Reticular hyperpigmentation, Basal cell carcinoma... ORPHA:2909
Kid Syndrome
Trichilemmoma, Psoriasiform dermatitis, Neoplasm of the skin, Neoplasm of the tongue, Folliculiti... ORPHA:477
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Eczema, Transitional cell carcinoma of the bladder, Pustule, Thin ski... ORPHA:2907
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Recurrent bacterial skin infections, Squamous cell carcinoma OMIM:148210
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Myelodysplasia, Leukemia, Hyperpigmentation of the skin, Basal cell carcino... ORPHA:221008
Xeroderma Pigmentosum, Complementation Group B
Cutaneous melanoma, Freckling, Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplas... OMIM:610651
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Myelodysplasia, Leukemia, Hyperpigmentation of the skin, Basal cell carcino... ORPHA:221016
Trichothiodystrophy
Eczema, Squamous cell carcinoma, Bilateral sensorineural hearing impairment, Protruding ear, Cong... ORPHA:33364
Rothmund-Thomson Syndrome, Type 2
Underfolded helix, Overfolded helix, Basal cell carcinoma, Prominent antihelix, Osteosarcoma, Squ... OMIM:268400
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma OMIM:226600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Irregular hyperpigmentation, Recurrent skin infections, Squamous cell carcinoma ORPHA:89842
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hearing impairment, Skin rash, Numerou... ORPHA:220295
Dyskeratosis Congenita, X-Linked
Myelodysplasia, Hodgkin lymphoma, Carcinoma, Hyperpigmentation of the skin, Acute myeloid leukemi... OMIM:305000
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Pruritus, Hyperpigmentation of the skin, Hypopigmentation of the skin, Recu... ORPHA:79277
Kindler Epidermolysis Bullosa
Abnormality of skin pigmentation, Recurrent skin infections, Squamous cell carcinoma, Neoplasm of... ORPHA:2908
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Oropharyngeal squamous cell carcinoma, Chronic muco... ORPHA:391487
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:308230
Dyskeratosis Congenita, Autosomal Dominant 1
Reticular hyperpigmentation, Myelodysplasia, Squamous cell carcinoma of the skin, Premature grayi... OMIM:127550
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Depigmentation/hyperpigmentation of skin, Hyperpigment... ORPHA:79396
Hermansky-Pudlak Syndrome
Partial albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyp... ORPHA:79430
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Pituitary adenoma, Carcinoid tumor, Renal angiomyolipoma, ... OMIM:610755
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Squamous cell carcinoma, Pyoderma ORPHA:79404
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Cutaneous melanoma, Recurrent skin infections, Squamous cell carcinoma ORPHA:79408
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary carcinoid tumor, Papillary r... ORPHA:363618
Oncogenic Osteomalacia
Carcinoma, Giant cell tumor of bone, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the ske... ORPHA:352540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Abnormality of B cell physiology, Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Meningioma, Neoplasm, Sensorineural hearing impairment, Spinal cor... ORPHA:353281
Tetrasomy 9P
Pilomatrixoma, Abnormal earlobe morphology ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Sensorineural hearing impairment, Conductive hearing impairment, Pilomatrixoma, Meningioma ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Sensorineural hearing impairment, Conductive hearing impairment, Pilomatrixoma, Meningioma ORPHA:353277

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Polh

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Polh.

No publications found that use IMPC mice or data for Polh.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Polhtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Polhtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter