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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
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Xeroderma Pigmentosum
Melanoma, Neoplasm, Papilloma, Thin skin, Neoplasm of the eye ORPHA:910

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Steatocystoma Multiplex
Steatocystoma multiplex OMIM:184500
Epidermodysplasia Verruciformis, Susceptibility To, 1
Basal cell carcinoma, Verrucae OMIM:226400
Melanoma, Cutaneous Malignant, Susceptibility To, 8
Cutaneous melanoma OMIM:614456
Trichoepithelioma, Multiple Familial, 1
Basal cell carcinoma OMIM:601606
Cylindromatosis, Familial
Neoplasm of the skin OMIM:132700
Basal Cell Carcinoma, Susceptibility To, 1
Basal cell carcinoma OMIM:605462
Melanoma, Cutaneous Malignant, Susceptibility To, 2
Cutaneous melanoma OMIM:155601
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Melanoma-Astrocytoma Syndrome
Astrocytoma, Cutaneous melanoma OMIM:155755
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Hyperkeratosis Lenticularis Perstans
Pruritus, Basal cell carcinoma, Squamous cell carcinoma 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
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae ORPHA:302
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Squamous cell carcinoma, Squamous cell ca... ORPHA:217390
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Squamous cell carcinoma ORPHA:542592
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Squamous cell carcinoma OMIM:602540
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Disseminated molluscum contagiosum, Atopic dermatitis, Eczema, Squamous cell carcinoma OMIM:243700
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma OMIM:614564
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent skin infections, Pustule, Squamous cell carcinom... ORPHA:678
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Recessive Dystrophic Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79409
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Chromomycosis
Pruritus, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Erythroderma, Squamous cell carcinoma OMIM:601675
Rothmund-Thomson Syndrome
Skin rash, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of t... ORPHA:2909
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Squamous cell carcinoma OMIM:148210
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma OMIM:613951
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Squamous cell carcinoma, Thin skin, Transitional cell carcinoma of the bladder ORPHA:2907
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma OMIM:226600
Xeroderma Pigmentosum, Complementation Group C
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:278720
Rothmund-Thomson Syndrome Type 1
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Myelodysplasia, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of th... ORPHA:221016
Bloom Syndrome
Leukemia, Lymphoma, Malar rash, Squamous cell carcinoma OMIM:210900
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Pilomatrixoma
Pilomatrixoma OMIM:132600
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Squamous cell carcinoma ORPHA:33364
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Recurrent skin infections, Squamous cell carcinoma ORPHA:89842
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Osteosarcoma, Squamous cell carcinoma OMIM:268400
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodgkin lymphoma, ... OMIM:305000
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Oculocutaneous Albinism Type 1B
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79434
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Eczema, Esophageal c... ORPHA:391487
Kindler Epidermolysis Bullosa
Recurrent skin infections, Neoplasm of the urethra, Squamous cell carcinoma ORPHA:2908
Congenital Erythropoietic Porphyria
Pruritus, Recurrent bacterial skin infections, Neoplasm of the skin, Squamous cell carcinoma ORPHA:79277
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:610651
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
Skin rash, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:220295
Severe Generalized Junctional Epidermolysis Bullosa
Pyoderma, Recurrent skin infections, Squamous cell carcinoma 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
Basal cell carcinoma, Recurrent skin infections, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79408
Dyskeratosis Congenita, Digenic
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:620040
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... 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
Papillary renal cell carcinoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, 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
Recurrent skin infections, Squamous cell carcinoma of the skin ORPHA:79396
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79430
Xeroderma Pigmentosum
Melanoma, Neoplasm, Papilloma, Thin skin, Neoplasm of the eye 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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