Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nibrin
Synonyms:
Nbs1

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 Nbn 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 Nbn by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Neoplasm, Hypospadias, Leukemia OMIM:310465
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Fanconi Anemia, Complementation Group G
Myelodysplasia, Abnormality of chromosome stability, Leukemia OMIM:614082
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Bazex Syndrome
Yellow nails, Liposarcoma, Neoplasm, Lung adenocarcinoma, Nail dystrophy ORPHA:166113
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... OMIM:605724
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Fanconi Anemia, Complementation Group S
Low anterior hairline, Sparse hair, Ovarian neoplasm, Long eyelashes, Breast carcinoma, Prominent... OMIM:617883
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow,... ORPHA:50944
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Subependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251639
Ependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251636
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Ataxia-Telangiectasia
Hypopigmentation of hair, Abnormality of chromosome stability, Elevated hepatic transaminase, Pre... ORPHA:100
Bloom Syndrome
Cryptorchidism, Azoospermia, Abnormality of chromosome stability, Bronchiectasis, Recurrent upper... OMIM:210900
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Thrombocytopenia, B lymphocy... OMIM:603554
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Non-Hodgkin lymphoma, Decreased proportion o... OMIM:208900
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Immunodeficiency 54
Lymphoproliferative disorder, Adrenocorticotropic hormone excess, Hepatomegaly, Recurrent respira... OMIM:609981
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Lymphadenopathy, Splenome... OMIM:608971
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Growth delay, Thrombocytope... ORPHA:169079
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Growth delay, B-cell lymphoma, B lymphocytopenia, Splenomegaly, L... OMIM:619164
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Chromosomal breakage induced by crosslinking agents, Neuroblastoma OMIM:610832
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Lig4 Syndrome
Cryptorchidism, Low anterior hairline, Abnormality of chromosome stability, Lymphoma, Wide nasal ... ORPHA:99812
Rhabdomyosarcoma, Embryonal, 2
Goiter, Pleuropulmonary blastoma, Multinodular goiter, Nephroblastoma, Ovarian thecoma, Embryonal... OMIM:180295
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Patent ductus arter... OMIM:612541
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lack of T cell function, Lymp... ORPHA:277
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Adrenocortical Carcinoma
Hypertrichosis, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Adrenocortical carci... ORPHA:1501
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Cowden syndrome 3
Neoplasm of the thyroid gland, Uterine leiomyoma, Renal cell carcinoma OMIM:615106
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of chromosome stability, Chromosome breakage OMIM:208910
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... ORPHA:206484
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Ovarian neoplasm, Neoplasm of the breast, ... ORPHA:2221
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Hepatomegaly, Sarcoma, Neoplasm of the ... ORPHA:83469
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Dermatomyositis
Gastrointestinal stroma tumor, Abnormal hair quantity, Pulmonary fibrosis, Lymphoma, Neoplasm, Ab... ORPHA:221
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Failure to thrive OMIM:615607
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide... OMIM:300853
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Decreased proportion of CD4-positive helpe... ORPHA:543
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... ORPHA:137608
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Nijmegen Breakage Syndrome
Low anterior hairline, Abnormality of chromosome stability, Abnormal hair morphology, Abnormal ha... ORPHA:647
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Increased circulating IgE level, Squamous cell ... ORPHA:217390
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage OMIM:614083
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227650
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Failure to thrive, Hepatosplenome... OMIM:242700
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Abnormal B cell count, Anemia, Splenomegaly, L... ORPHA:100024
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hirsutism, Sparse axillary hair, Hypospadias... OMIM:613762
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Failure to thrive, Intrauterine growth retardation, Cli... OMIM:214110
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Genital u... OMIM:602450
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:600901
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal, Squamous cell carcinoma of the skin ORPHA:85112
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Gastrointestinal Defects And Immunodeficiency Syndrome
Hypoplasia of the thymus, Autoimmune hemolytic anemia, Intrauterine growth retardation OMIM:243150
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227645
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Hypergonadotropic hypogonadism, Growth delay, Primary amenorrh... ORPHA:91
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Secondary amenorrhea, Short stature, Hypogonadotropic hypogonadism, Decreased... ORPHA:1643
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Cushing Syndrome Due To Ectopic Acth Secretion
Generalized hirsutism, Pheochromocytoma, Neuroendocrine neoplasm, Thyroid carcinoma, Thymoma, Sma... ORPHA:99889
Syndromic Diarrhea
Thrombocytosis, Hypothyroidism, Lymphopenia, Panhypogammaglobulinemia, Increased mean platelet vo... ORPHA:84064
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes ... ORPHA:2959
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm, Trichilemmoma ORPHA:65285
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse... OMIM:600802
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Neoplasm, Breast carcinoma, Pulmonary artery stenosi... ORPHA:902
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Extrahepatic cholestasis, Neoplasm of the liver, Melanoma, Jaundic... ORPHA:1333
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal circulating hormone concentration, Fibrosarcoma, Abnormality o... ORPHA:314478
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Increased B cell c... ORPHA:2442
Nijmegen Breakage Syndrome
T lymphocytopenia, Medulloblastoma, Autoimmune hemolytic anemia, Glioma, Lymphoma, Thrombocytopen... OMIM:251260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Neutropenia, B lymphocytopenia, Agammaglobulinemia, Failure... OMIM:601495
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Ambiguous genitalia, Ovotestis, Carcinoma, Decreased testicular size, Extern... OMIM:610644
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymphoproliferative disorder, Decreased proportion of CD3-positive T cells, Decre... ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Sebocystomatosis
Steatocystoma multiplex, Adenoma sebaceum ORPHA:841
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Neutropenia, Reticulocy... OMIM:227646
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Lymphoproliferative disorder, Decreased proportion of CD8-positive T cells, Autoim... ORPHA:911
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Thyroiditis, Generalized lymphadenopathy, Pa... OMIM:614700
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Decreased speci... ORPHA:3261
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Jaundice, Brain neoplasm, Neoplasm of the ... ORPHA:370348
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Meningioma, Fibroadenoma ... OMIM:158350
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... ORPHA:247768
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... OMIM:613011
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Intrauterine growth retardation OMIM:617022
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lympho... ORPHA:906
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal nat... ORPHA:79124
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm ORPHA:231632
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex... OMIM:194080
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Hypogonadism, Micropenis, Tr... OMIM:300514
Treacher-Collins Syndrome
Cryptorchidism, Scrotal hypoplasia, Patent ductus arteriosus, Multiple enchondromatosis, Hypoplas... ORPHA:861
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Ovarian Fibroma
Basal cell carcinoma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calci... ORPHA:314473
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus OMIM:603467
Pyomyositis
Testicular teratoma ORPHA:764
Meningioma
Neurofibromas, Enlarged pituitary gland, Pituitary hypothyroidism, Neoplasm of the posterior pitu... ORPHA:2495
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia, Intrauterine growth retardation ORPHA:563609
Fanconi Anemia
Cryptorchidism, Myelodysplasia, Abnormality of the uterus, Azoospermia, Absent testis, Abnormalit... ORPHA:84
22Q11.2 Deletion Syndrome
Cryptorchidism, Abnormality of the uterus, Hypothyroidism, Patent ductus arteriosus, Cholelithias... ORPHA:567
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Rectal abscess, Hypoplasi... ORPHA:436252
Eec Syndrome
Urethral atresia, Lymphoma, Hypoplasia of the thymus, Short stature, Hypospadias, Anterior hypopi... ORPHA:1896
Selective Igm Deficiency
Non-Hodgkin lymphoma, Multiple myeloma, Cutaneous abscess, Decreased proportion of CD8-positive T... ORPHA:331235
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Ovarian neoplasm, Elevated hepatic transaminas... ORPHA:100079
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Postnatal growth retardation, Intrauterine growth ret... OMIM:246200
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Postnatal growth retardation, Leukopenia, Intrauterine grow... OMIM:615190
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Thyroidit... ORPHA:99867
Proteus-Like Syndrome
Hemangioma, Subcutaneous lipoma, Polycystic ovaries, Abnormality of the parathyroid gland, Spleno... ORPHA:2969
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature ORPHA:3004
Icf Syndrome
Abnormality of chromosome stability, Recurrent respiratory infections, Depressed nasal bridge ORPHA:2268
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Hodgkin lymphoma, Increased circulating IgG level, Le... ORPHA:2298
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Failure to thrive OMIM:615758
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Sotos Syndrome
Cryptorchidism, Hemangioma, Sacrococcygeal teratoma, Hydrocele testis, Neuroblastoma, Neoplasm, S... ORPHA:821
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Osteocho... ORPHA:1359
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Increased circulating antibody level, Abnormality of the testis... ORPHA:400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Lymphopenia, Neutropenia, Rhizomelic arm shortening, Reticulocytopenia, Thrombocy... ORPHA:508542
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Sparse hair, Wide nasal bridge, Hepatomegaly, Sparse and thi... ORPHA:175
Progressive Multifocal Leukoencephalopathy
Hematological neoplasm, Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-... ORPHA:217260
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Disproportionate short stature, Increased circulating IgE level, Decreased pro... ORPHA:508533
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Meningi... OMIM:615109
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Growth delay, Sideroblastic ... OMIM:616084
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Hypothyroidism, Lymphopenia, Neutropenia, Short s... OMIM:607944
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99228
Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99226
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Meningioma, Gonadal neoplasm, Sarcoma, Schw... ORPHA:96123
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Biliary hyperplasia, Cholelithiasis, Postnatal growth r... ORPHA:83617
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Hamartomatous p... OMIM:175200
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Esophageal carcinoma, Lymphopenia, Grow... ORPHA:391487
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Meningi... OMIM:615108
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Midfrontal capillary hemangioma, Abno... ORPHA:95699
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased specific antibody response to vaccination, Decreased proportion of CD4-positive helper ... ORPHA:221139
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality, Patent ductus arteriosus, Intrauterine grow... ORPHA:3384
Proteus Syndrome
Ovarian neoplasm, Neoplasm, Thymus hyperplasia, Lymphangioma, Neoplasm of the central nervous sys... ORPHA:744
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135

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 Nbn

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 Nbn.

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

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MGI Allele Allele Type Produced
Nbntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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