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Gene: Ddb2 MGI:1355314

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
damage specific DNA binding protein 2
Synonyms:
2610043A19Rik,  p48

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Ddb2 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 Ddb2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Xeroderma Pigmentosum
Neoplasm, Melanoma, Neoplasm of the eye, Papilloma, Thin skin ORPHA:910

The table below shows human diseases predicted to be associated to Ddb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cylindromatosis, Familial
Neoplasm of the skin OMIM:132700
Basal Cell Carcinoma, Susceptibility To, 1
Basal cell carcinoma OMIM:605462
Epidermodysplasia Verruciformis, Susceptibility To, 1
Basal cell carcinoma, Verrucae OMIM:226400
Melanoma, Cutaneous Malignant, Susceptibility To, 2
Cutaneous melanoma OMIM:155601
Melanoma, Cutaneous Malignant, Susceptibility To, 8
Cutaneous melanoma OMIM:614456
Trichoepithelioma, Multiple Familial, 1
Basal cell carcinoma OMIM:601606
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma, Pruritus ORPHA:79152
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Squamous cell carcinoma, Chronic furunculosis, Perifolliculitis, Recurrent cutaneou... OMIM:613736
Melanoma-Astrocytoma Syndrome
Astrocytoma, Cutaneous melanoma OMIM:155755
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma, Pruritus ORPHA:409
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Epidermodysplasia Verruciformis
Verrucae, Pustule, Squamous cell carcinoma, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Verrucae, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Recur... ORPHA:217390
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... ORPHA:158057
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ... OMIM:278760
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Necrobiosis Lipoidica
Squamous cell carcinoma, Inflammatory abnormality of the skin ORPHA:542592
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma, Erythroderma OMIM:602540
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma OMIM:278750
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Oropharyngeal squamous cell carcinoma, Actinic keratosis, Breast carcinoma OMIM:614564
Papillon-Lefèvre Syndrome
Neoplasm of the skin, Pustule, Melanoma, Chronic furunculosis, Squamous cell carcinoma, Recurrent... ORPHA:678
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Eczematoid dermatitis, Cutaneous abscess, Molluscum contagiosum, Disseminated ... OMIM:243700
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma, Pruritus ORPHA:182
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Kid Syndrome
Neoplasm of the skin, Trichilemmoma, Folliculitis, Acne inversa, Psoriasiform dermatitis, Recurre... ORPHA:477
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Squamous cell carcinoma, Erythroderma OMIM:601675
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma, Recurrent bacterial skin infections OMIM:148210
Rothmund-Thomson Syndrome
Neoplasm of the skin, Basal cell carcinoma, Malar rash, Skin rash, Melanoma, Squamous cell carcin... ORPHA:2909
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma OMIM:613951
Hereditary Acrokeratotic Poikiloderma
Eczematoid dermatitis, Pustule, Squamous cell carcinoma, Transitional cell carcinoma of the bladd... ORPHA:2907
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma OMIM:226600
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma OMIM:278720
Bloom Syndrome
Leukemia, Squamous cell carcinoma, Malar rash, Lymphoma OMIM:210900
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys... ORPHA:221008
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Melanoma, Squamous cell carcinoma, Leukemia... ORPHA:221016
Pilomatrixoma
Pilomatrixoma OMIM:132600
Trichothiodystrophy
Congenital exfoliative erythroderma, Squamous cell carcinoma, Eczematoid dermatitis ORPHA:33364
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Squamous cell carcinoma, Recurrent skin infections ORPHA:89842
Disabling Pansclerotic Morphea Of Childhood
Squamous cell carcinoma of the skin OMIM:620443
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Squamous cell carcinoma, Acute myeloid l... OMIM:305000
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma OMIM:268400
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, O... ORPHA:391487
Kindler Epidermolysis Bullosa
Squamous cell carcinoma, Recurrent skin infections, Neoplasm of the urethra ORPHA:2908
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma OMIM:610651
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Squamous cell carcinoma, Pruritus, Recurrent bacterial skin infections ORPHA:79277
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Squamous cell carcinoma of the skin, Myelodysplasia OMIM:620365
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, Skin rash ORPHA:220295
Severe Generalized Junctional Epidermolysis Bullosa
Pyoderma, Squamous cell carcinoma, Recurrent skin infections ORPHA:79404
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Squamous cell carcinoma, Recurrent skin infections, Cutaneous melanoma ORPHA:79408
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin OMIM:620040
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Pulmon... ORPHA:363618
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Myelodysplasia OMIM:127550
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Recurrent skin infections ORPHA:79396
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79430
Xeroderma Pigmentosum
Neoplasm, Melanoma, Neoplasm of the eye, Papilloma, Thin skin ORPHA:910

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 Ddb2

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 Ddb2.

No publications found that use IMPC mice or data for Ddb2.

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MGI Allele Allele Type Produced
Ddb2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ddb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ddb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ddb2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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