Gene Summary

Name:
zinc finger, RAN-binding domain containing 1
Synonyms:
D7Wsu87e,  9330160G10Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytosis Zranb1tm1a(EUCOMM)Hmgu HOM Early adult 1.73×10-05
preweaning lethality, incomplete penetrance Zranb1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased lean body mass Zranb1tm1a(EUCOMM)Hmgu HOM Early adult 4.99×10-06

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

DSS Histology

Images

6 Images

Anti-nuclear antibody assay

Images

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Ear epidermis immunophenotyping

Images

9 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Legacy Phenotype Associated Images

View all 84 images

Human diseases caused by Zranb1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zranb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:312863
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Diarrhea, Weight loss, Abdominal pain, Ulcerative... OMIM:266600
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Inflammatory Bowel Disease 11
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased CD4:CD8 ratio... OMIM:617006
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... ORPHA:169079
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic an... ORPHA:444463
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Enterocutaneous fistula, Rectovaginal ... OMIM:612567
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly OMIM:209950
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly OMIM:604416
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Primary Myelofibrosis
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis,... ORPHA:824
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Enterocolitis, Diarrhea OMIM:260005
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Neutropenia in presence o... OMIM:601859
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Inflammation of the large intestine, Crohn's disease, Failure to thrive OMIM:615767
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Pseudomyxoma Peritonei
Weight loss, Nausea and vomiting, Abdominal pain, Inflammation of the large intestine, Intestinal... ORPHA:26790
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Autoimmunity... OMIM:614470
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, T lymphocytopenia, B lymphocytopenia, Autoimmunity, ... ORPHA:277
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C... ORPHA:169154
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Heme Oxygenase 1 Deficiency
Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis OMIM:614034
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Pancytopenia, Autoimmune ... OMIM:613011
Immunodeficiency 11B With Atopic Dermatitis
Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Chronic diarrhea, Pneumonia, Atopic der... OMIM:617638
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating interleuk... ORPHA:158061
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Increased circulating IgM... OMIM:617241
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Diarrhea, Bronchiectasis, Skin rash, Inflammation of the large intestine, Failu... OMIM:618108
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Inflammation of the large intestine, Colitis, Recurren... OMIM:300635
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Chronic diarrhea, Diarrhea, Villous atrophy, Small for gestational age, Failure ... OMIM:614602
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus OMIM:109350
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Auto... OMIM:616005
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Failure to thrive, Thrombocytosis OMIM:615934
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Autoimmunity, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosi... OMIM:618398
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Increased circulating IgG lev... OMIM:618495
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Ileal ulcer, Colitis OMIM:616744
Immunodeficiency 76
Recurrent pneumonia, Chronic diarrhea, Colitis OMIM:619164
Familial Thrombocytosis
Acute myeloid leukemia, Weight loss, Thrombocytosis, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Anemia, Thrombocytosis OMIM:226300
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Immunodeficiency 70
Achalasia, Recurrent sinusitis, Celiac disease, Furuncle, Colitis OMIM:618969
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:760
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Leukocytosis ORPHA:98827
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatitis, ... OMIM:209920
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, Co... OMIM:613960
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia OMIM:212750
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased circulating antibo... ORPHA:331206
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Villous atrophy, Skin rash, Feeding difficulties in infancy, Episodic vomiting, Fa... OMIM:616050
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... OMIM:619510
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Weight loss ORPHA:134
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... ORPHA:324636
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Juvenile rheumatoid arthritis, Autoimmunity, Hashimoto thyroiditis, Decreased circulating IgA lev... ORPHA:275
Poems Syndrome
Thrombocytosis, Polycythemia, Weight loss ORPHA:2905
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Weight loss, Thrombocytosis, Leukocytosis ORPHA:20
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... ORPHA:124
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, T lymphocytopenia, Decreased circulating antibody level, Neutropenia in... ORPHA:572
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Weight loss, Lymphocytosis, Thrombocytosis, Decreased proporti... OMIM:301074
Diffuse Alveolar Hemorrhage
Anemia, Autoimmunity, Rheumatoid factor positive, Leukocytosis, Antiphospholipid antibody positiv... ORPHA:90060
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis, Chronic diarrhea OMIM:618394
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Colonic eosinophilia, Failure to thrive, Atopic dermatitis, Memb... OMIM:618999
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Thrombocytosis OMIM:212065
Interstitial Lung And Liver Disease
Failure to thrive, Anemia, Thrombocytosis OMIM:615486
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivi... ORPHA:449400
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Autoimmunity, Decreased circulating IgE, Decreased circu... OMIM:615758
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, ... OMIM:615688
Diamond-Blackfan Anemia 1
Reticulocytopenia, Failure to thrive, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red... OMIM:105650
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmunity ORPHA:90036
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Eosinophilia, Myelop... ORPHA:3260
Trichohepatoenteric Syndrome 1
Splenomegaly, Small for gestational age, Failure to thrive, Thrombocytosis, Increased mean platel... OMIM:222470
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Selective Igm Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Rheumatoid arthritis, Neutropen... ORPHA:331235
Immunodeficiency 58
Recurrent aphthous stomatitis, Chronic diarrhea, Bronchiectasis, Allergic rhinitis, Eczema, Cutan... OMIM:618131
Hepatocellular Carcinoma
Anemia, Weight loss, Polycythemia, Thrombocytosis, Thrombocytopenia ORPHA:88673
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis OMIM:613101
Syndromic Diarrhea
Hypoplasia of the thymus, Small for gestational age, Increased mean platelet volume, Lymphopenia,... ORPHA:84064
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Immunodeficiency, Common Variable, 8, With Autoimmunity
Conjunctivitis, Atrophic gastritis, Chronic diarrhea, Villous atrophy, Bronchiectasis, Erythema n... OMIM:614700
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Interstitial pneumonitis, Recurrent otitis media... OMIM:616433
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Stomatit... ORPHA:911
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, High palate, Necrotizing enterocolitis, Abdominal pain, Feeding difficulties OMIM:616809
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Weight loss, Poor appetite, Skin rash, Arthritis, Inflammation of the large intest... ORPHA:324964
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Diarrhea, Weight loss, Abdominal pain, Protracted diarrhea, Constrictive pericar... ORPHA:67
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Cachexia, Eczema, Myositis, Abnormal intestine morphology, Gast... ORPHA:37042
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Eosinophilia, Decreased proportion of CD4-posi... ORPHA:3261
Brucellosis
Leukopenia, Anemia, Weight loss, Small for gestational age, Hypersplenism, Failure to thrive, Thr... ORPHA:1304
Shigellosis
Conjunctivitis, Intestinal perforation, Bloody diarrhea, Vomiting, Myocarditis, Bloody mucoid dia... ORPHA:810
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... ORPHA:100026
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Recurrent pneumonia, Colitis, Chronic diarrhea, Failure to thrive in infancy OMIM:301220
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Oligoarthritis, Hip osteoarthritis, Enthesitis, Inflammation of the large i... OMIM:106300
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Aplastic anemia, Splenomegaly, Dec... ORPHA:2442
Hyperlipoproteinemia, Type Id
Failure to thrive, Recurrent pancreatitis, Pancreatitis, Colitis OMIM:615947
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Sapho Syndrome
Chronic diarrhea, Osteomyelitis, Malabsorption, Enthesitis, Skin rash, Arthritis, Abdominal pain,... ORPHA:793
Autoimmune Hepatitis
Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Abdominal pain, Hepatocellular carcinoma,... ORPHA:2137
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Ulcerative colitis, Eczema, Anal fissure, Recur... OMIM:618935
Cyclic Neutropenia
Enterocolitis, Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Otitis media, Recurren... ORPHA:2686
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Weight loss, Abdominal pain, Keratoconjunctivitis sicca, Steatorrhea, Abdominal distent... ORPHA:309031
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Vomiting, Diarrhea, Intussusception, Abdominal pain, Pan... ORPHA:90038
Zygomycosis
Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Unusual gastrointestinal infe... ORPHA:73263
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Absent microvilli on the surface of peripheral blood lymphocytes... OMIM:301000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Bloody diarrhea, Skin rash, Inflammation of the large intestine, Colonic eosinophilia, Failure to... OMIM:617718
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Bronchiectasis, Bowel irritability, Gastritis, Colitis, Recurrent skin infections, Pneu... OMIM:619381
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... ORPHA:2968
Autoimmune Polyendocrinopathy Type 4
Leukopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthritis, Decreased circul... ORPHA:227990
Reactive Arthritis
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Diarrhea, Weight loss, Enthesitis, ... ORPHA:29207
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Sepsis In Premature Infants
Vomiting, Enterocolitis, Decreased body weight, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Thymoma
Neoplasm of the gastrointestinal tract, Weight loss, Rheumatoid arthritis, Ulcerative colitis, My... ORPHA:99867
Iga Pemphigus
Cutaneous abscess, Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis ORPHA:555905
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Colitis, Erythroderma, Decreased liver function, Infectious encephalitis, Maculopapula... ORPHA:540
Doors Syndrome
Thrombocytosis ORPHA:79500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Chronic diarrhea, Abdominal pain, Eczema, Inflammation of the large intestine, Fai... OMIM:615895
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased circulating total IgM, Decreased circulating anti... ORPHA:508533
Kindler Epidermolysis Bullosa
Conjunctivitis, Esophageal stricture, Dysphagia, Abnormality of the anus, Recurrent skin infectio... ORPHA:2908
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Diarrhea, Villous atrophy, Bronchiectasis, Hepatitis, Inflammatory abnormality of ... ORPHA:391487
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Intestinal perforation, Bloody diarrhea, Vomiting, Diarrhea, Myocarditis, Intus... ORPHA:544482
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Diarrhea, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ulcerative colitis... ORPHA:79259
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Weight loss, Hepatitis, Abdominal pain, Thyroiditis, Cholangiocarcin... ORPHA:171
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Ulcerative colitis, Infla... ORPHA:562639
Cocaine Intoxication
Tubulointerstitial nephritis, Intestinal perforation, Bloody diarrhea, Vomiting, Abdominal pain, ... ORPHA:90068
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Atrophic gastritis, Villous atrophy, Small for gestational age, Necrotizing ente... OMIM:619573
Plague
Lymphadenitis, Endocarditis, Bloody diarrhea, Vomiting, Enterocolitis, Diarrhea, Erythema nodosum... ORPHA:707
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Weight loss, Iridocyclitis, Arthritis, Uveitis, Inflammation of the large intesti... OMIM:181000
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Feeding difficulties in infancy, Pyloric stenosis, Bifid uv... OMIM:617137
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, Inflammation of... OMIM:232240
Mowat-Wilson Syndrome
Vomiting, Enterocolitis, Decreased body weight, Dependency on intravenous nutrition, Aganglionic ... ORPHA:2152

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 Zranb1

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 Zranb1.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The deubiquitinase TRABID stabilises the K29/K48-specific E3 ubiquitin ligase HECTD1. The Journal of biological chemistry (January 2021) Zranb1tm1b(EUCOMM)Hmgu 33428934
The deubiquitinase TRABID stabilizes the K29/K48-specific E3 ubiquitin ligase HECTD1. The Journal of biological chemistry (December 2020) Zranb1tm1a(EUCOMM)Hmgu PMC7948964
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Zranb1tm1a(EUCOMM)Hmgu PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Zranb1tm1a(EUCOMM)Hmgu PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Zranb1tm1a(EUCOMM)Hmgu PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)