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Gene: Msh6 MGI:1343961

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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:
mutS homolog 6
Synonyms:
GTBP,  Msh6,  Gtmbp

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... OMIM:619097

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
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
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
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Cervical Cancer
Cervix cancer, Neoplasm OMIM:603956
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Thyroid Cancer, Nonmedullary, 4
Basal cell carcinoma, Ovarian neoplasm, Prostate cancer, Papillary thyroid carcinoma OMIM:616534
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Ovarian cyst,... OMIM:175200
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hereditary Mixed Polyposis Syndrome
Intussusception, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid c... ORPHA:157794
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Brain ne... ORPHA:370348
Pilomatrixoma
Neoplasm of head and neck, Pilomatrixoma ORPHA:91414
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:619707
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
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
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Pilomatrixoma
Pilomatrixoma OMIM:132600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, Esophageal neoplasm,... ORPHA:1018
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:613502
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Abnormal large intestine morphology, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... OMIM:613493
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Myeloma, Multiple
Paraproteinemia OMIM:254500
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Ring Chromosome 12 Syndrome
High, narrow palate, Glandular hypospadias, Cryptorchidism, Hemangioma, Uterine leiomyoma ORPHA:1439
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... OMIM:300400
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency 62
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... OMIM:618459
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblastoma, Para... ORPHA:99880
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... OMIM:620189
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Parathyroid Carcinoma
Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carcinom... ORPHA:143
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:612692
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Disabling Pansclerotic Morphea Of Childhood
Squamous cell carcinoma of the skin OMIM:620443
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Exostoses, Uterine leiomyoma OMIM:616482
Immunodeficiency 18
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... OMIM:615615
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Ovarian thecoma, Nephroblastoma OMIM:180295
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma, Intestinal obstruction OMIM:606764
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... ORPHA:201
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma OMIM:278720
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Intestinal obstructi... ORPHA:44890
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Squamous cell carcinoma of the skin, Myelodysplasia OMIM:620365
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... OMIM:240500
Desmoplastic Small Round Cell Tumor
Ileus, Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the ... ORPHA:83469
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma OMIM:610651
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:619281
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function ORPHA:277
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Macroglossia, Glossitis, Ovarian neoplasm, Neoplasm... ORPHA:2221
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction ORPHA:97286
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary OMIM:615723
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Male pseudohermaphroditism,... ORPHA:90790
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619752
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, Oral leukoplakia OMIM:620040
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
High, narrow palate, Melanoma, Endometrial carcinoma, Breast carcinoma ORPHA:457212
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607594
Immunodeficiency 112
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620449
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:620532
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:618394
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Decreased circulating IgG level OMIM:620603
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... ORPHA:169154
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin ORPHA:220295
Immunodeficiency 52
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l... OMIM:617514
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:301081
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619510
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... ORPHA:139411
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia OMIM:619705
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Myelodysplasia, Oral leukoplakia OMIM:127550
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Meningioma, Fibroadenoma o... OMIM:158350
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Macroglossia, Ovarian n... ORPHA:65285
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Pulmon... ORPHA:363618
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level... OMIM:612783
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:169160
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac... OMIM:606367
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79430
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:331206
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Neoplasm of the skin, Male hypogonadism, Intestinal pseudo-obst... ORPHA:273
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Smooth tongue ORPHA:79396
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM OMIM:243700
Carney Complex
Follicular thyroid carcinoma, Ovarian cyst, Neoplasm of the pharynx, Ovarian dermoid cyst, Neopla... ORPHA:1359
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615758
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
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 IgA level, Decreased circulating IgG2 leve... OMIM:102700
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Ovarian carcinoma, Melano... ORPHA:1333
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Anal atresia, Lymphoma ORPHA:1572
Immunodeficiency 23
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level OMIM:615816
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612782
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Aspergillosis
Increased circulating IgE level ORPHA:1163
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin... ORPHA:3261
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level OMIM:616005
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Pgm3-Cdg
Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re... ORPHA:443811
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619802
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level ORPHA:2314
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Mechanical ileus, Ileal adenocarcinoma, Midgut malrotation, Appendic... ORPHA:100079
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
17Q11 Microdeletion Syndrome
Precocious puberty, Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neur... ORPHA:97685
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Meningioma, Intestinal malrotation, Neoplasm, Cryptorchidism, Pilomatrixoma, Narrow palate, Hypos... ORPHA:353281
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... ORPHA:221139
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level OMIM:620565
Tetrasomy 9P
Bifid uvula, Median cleft palate, Cryptorchidism, Pilomatrixoma, Oligozoospermia, Micropenis, Hig... ORPHA:3310
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Apert Syndrome
Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Ovarian neoplasm, Cleft palate ORPHA:87
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Igg4-Related Kidney Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449395
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Meningioma, Intestinal malrotation, Cryptorchidism, Pilomatrixoma, High palate, Hy... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Meningioma, Intestinal malrotation, Cryptorchidism, Pilomatrixoma, High palate, Hy... 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
Dermatomyositis
Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Breast carcinoma ORPHA:221
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level OMIM:613385
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased specific pneumococcal antibody level, Decreased circul... ORPHA:183675
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:90363
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio... OMIM:208900
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:125
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level OMIM:613327
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Selective Igm Deficiency
Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total... ORPHA:331235
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Hypogonadism, Neoplasm of the thyr... ORPHA:79474
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... OMIM:619097
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Proteus Syndrome
Rib exostoses, Long penis, Capillary hemangioma, Meningioma, Exostosis of the external auditory c... ORPHA:744
Autoinflammatory Disease, Systemic, With Vasculitis
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:620376
Viss Syndrome
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level OMIM:619472
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:147060
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... OMIM:619381
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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Msh6tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Msh6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Msh6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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