Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mutS homolog 6
Synonyms:
Msh6,  GTBP,  Gtmbp

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 Msh6 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 Msh6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Msh6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Cowden syndrome 3
Neoplasm of the thyroid gland, Uterine leiomyoma, Renal cell carcinoma OMIM:615106
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the liver, Uterine neoplasm,... ORPHA:2126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Neoplasm of the rectum, Neoplasm of the nose, Enlarged polycystic ovaries... ORPHA:2869
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neuroblastoma, Neoplasm of t... ORPHA:440437
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal bleeding, Intussusception, G... OMIM:175200
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Increased circulating IgE l... OMIM:618944
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Pten Hamartoma Tumor Syndrome
Hemangioma, Ganglioneuroma, Colon cancer, Endometrial carcinoma, Neoplasm, Renal cell carcinoma, ... ORPHA:306498
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Brain neoplasm, Neoplasm of the scrotum, P... ORPHA:370348
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Carney Complex
Osteochondroma, Cardiac myxoma, Adrenocortical carcinoma, Parathyroid adenoma, Neoplasm of the pa... ORPHA:1359
Pilomatrixoma
Pilomatrixoma OMIM:132600
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Fibroma, Esophageal neopla... ORPHA:1018
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
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
Kimura Disease
Increased circulating IgE level ORPHA:482
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Insulinoma, Carcinoid tumor, Parathyroid adenoma, Neuroendocrine neoplasm... ORPHA:276152
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Myeloma, Multiple
Paraproteinemia OMIM:254500
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm OMIM:615723
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Meningioma, Neoplasm of the breast, Lymphoma, Neoplasm, Uterine neoplasm, Thyroid ... ORPHA:109
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Ring Chromosome 12 Syndrome
Glandular hypospadias, Cryptorchidism, Hemangioma, Uterine leiomyoma, High, narrow palate ORPHA:1439
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas OMIM:606764
Maffucci Syndrome
Neoplasm of the parathyroid gland, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Multiple en... ORPHA:163634
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Peptic ulcer, Renal hamartoma, Nephroblastoma, Thyroid carcinoma, Tes... ORPHA:99880
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... OMIM:300400
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Peptic ulcer, Nephroblastoma, Renal hamartoma,... ORPHA:143
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Ovarian thecoma, Nephroblastoma, Pleuropulmonary blastoma OMIM:180295
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Paragangliomas 4
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... OMIM:115310
Candidiasis, Familial, 2
Increased circulating IgE level OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, High ... ORPHA:201
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278720
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, High palate, Epispadias, Micropenis, Ambigu... ORPHA:1772
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma ORPHA:97286
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level ORPHA:277
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Xeroderma Pigmentosum, Complementation Group B
Neoplasm, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma of the skin OMIM:610651
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hypospadias, Clitoral hypertrophy OMIM:613762
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Sarcoma, Neoplasm of the lung, Testicul... ORPHA:83469
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Whim Syndrome
Cutaneous melanoma, Papilloma, Verrucae, Abnormality of the small intestine, Cervix cancer, Parot... ORPHA:51636
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory sy... ORPHA:2221
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... ORPHA:137608
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Breast carcinoma... ORPHA:90790
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, High, narrow palate, Breast carcinoma, Melanoma ORPHA:457212
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgE level, Inc... ORPHA:449400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Paragang... ORPHA:139411
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG ... ORPHA:169154
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Oculocutaneous Albinism
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:55
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Myelodysplasia, Squamous cell carcinoma of the skin OMIM:127550
Oculocutaneous Albinism Type 2
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79432
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Lhermitte-Duclos Disease
Macroglossia, Ovarian neoplasm, Neoplasm of the thyroid gland, Fibroadenoma of the breast, Trichi... ORPHA:65285
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Papillary renal cell carcinoma, Pulmonary carcinoid tumor, Squamous cell ca... ORPHA:363618
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Carcinoma, High palate, Meningioma, Furrowed... OMIM:158350
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Autoimmune Lymphoproliferative Syndrome, Type V
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgG2 level, Absent specific antibody respo... OMIM:102700
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Kid Syndrome
Oral leukoplakia, Aganglionic megacolon, Neoplasm, Furrowed tongue, Squamous cell carcinoma of th... ORPHA:477
Werner Syndrome
Renal neoplasm, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Neoplasm of the oral cavity, ... ORPHA:902
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex... OMIM:194080
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Malabsorption, Squamous cell carcinoma of the skin ORPHA:79430
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased lymphocyte proli... ORPHA:169160
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Breast carcinoma OMIM:617883
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:331206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Decr... OMIM:606367
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Anal atresia, Lymphoma ORPHA:1572
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Squamous cell carcinoma of the skin ORPHA:79396
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm ORPHA:231632
Familial Pancreatic Carcinoma
Neoplasm of the liver, Intestinal pseudo-obstruction, Melanoma, Breast carcinoma, Ovarian carcino... ORPHA:1333
Netherton Syndrome
Decreased circulating antibody level, Increased circulating IgE level ORPHA:634
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Steinert Myotonic Dystrophy
Male hypogonadism, Hypergonadotropic hypogonadism, Choroidal melanoma, Endometrial carcinoma, Int... ORPHA:273
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:600903
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Myelodysplasia, Neoplasm, Cleft palate, Duodenal atresia, Nephroblastoma, St... ORPHA:1052
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Increased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Aspergillosis
Increased circulating IgE level ORPHA:1163
17Q11 Microdeletion Syndrome
Myelodysplasia, Lisch nodules, Atypical neurofibromatosis, Gastrointestinal stroma tumor, Optic n... ORPHA:97685
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Pgm3-Cdg
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgA level... ORPHA:443811
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Neoplasm, Breast carcinoma, Lung adenocarcinoma ORPHA:221
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased lymphocyte proliferation in response t... ORPHA:35078
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Ovarian neoplasm, Midgut malrotation, Ileal ad... ORPHA:100079
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level ORPHA:330015
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:301000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:614700
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Increased circulating IgE level, De... OMIM:618213
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Narrow palate, Pilomatrixoma, Intestinal malrotation, Meningioma, Spinal cord tum... ORPHA:353281
Tetrasomy 9P
Median cleft lip and palate, Cryptorchidism, Pilomatrixoma, Oligospermia, Cleft palate, Bifid uvu... ORPHA:3310
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Decreased serum complement C4,... ORPHA:449395
Ataxia-Telangiectasia
Defective B cell differentiation, Decreased circulating IgG level, Decreased circulating IgG2 lev... OMIM:208900
Apert Syndrome
Narrow palate, Ovarian neoplasm, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula ORPHA:87
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Increased circulating IgM level, Decreased circulating ... ORPHA:2442
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Hydrocele testis, Narrow palate, Pilomatrixoma, Meningioma, Intestinal malrotatio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Hydrocele testis, Narrow palate, Pilomatrixoma, Meningioma, Intestinal malrotatio... ORPHA:353277
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level ORPHA:37042
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Trichinellosis
Increased circulating IgE level ORPHA:863
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level OMIM:613385
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level OMIM:613327
Selective Igm Deficiency
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein... ORPHA:331235
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:125
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Proteus Syndrome
Neoplasm of the central nervous system, Ovarian neoplasm, Hamartoma, Long penis, Enlarged polycys... ORPHA:744
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Mismatch Repair Cancer Syndrome 3
Lisch nodules, Neoplasm of the rectum, Glioblastoma multiforme, Lymphoma, T-cell lymphoma, Astroc... OMIM:619097
Atypical Werner Syndrome
Renal neoplasm, Premature ovarian insufficiency, Ovarian neoplasm, Neoplasm of the oral cavity, A... ORPHA:79474
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617

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 Msh6

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 Msh6.

No publications found that use IMPC mice or data for Msh6.

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MGI Allele Allele Type Produced
Msh6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Msh6tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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