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
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
thrombocytosis Zranb1tm1a(EUCOMM)Hmgu HOM Early adult 1.73×10-05

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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 Forepaw

16 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Ear epidermis immunophenotyping

Images

9 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
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... OMIM:613495
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Splenomegaly, Lymphopenia, Autoimmunit... ORPHA:444463
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytosis, Histiocytosis OMIM:209950
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Primary Myelofibrosis
Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Poikilocytosis, Hepatosplenomegaly,... ORPHA:824
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Immunodeficiency 52
Abnormal natural killer cell count, Decreased circulating antibody level, T lymphocytopenia, Sple... OMIM:617514
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal... OMIM:269840
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Iron deficiency anemia, Plat... OMIM:601859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia... OMIM:614470
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Weight... ORPHA:26790
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Anti-thyroid peroxidase antibody positivity, ... ORPHA:277
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... OMIM:617638
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, Asplenia OMIM:614034
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hypoplasia of the ... OMIM:617241
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Failure to... OMIM:618108
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased cir... ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... OMIM:300635
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Systemic lupus erythematosus, Refractory anemia OMIM:616871
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Failure to thrive, Leukopenia, Lymphopenia, Thrombocytosis OMIM:615934
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Failure to thriv... OMIM:614602
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating IgG level, Splenomegaly, Autoimmunity, Decreas... OMIM:618495
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Autoimmunity, Increas... OMIM:618398
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Anemia, Iron deficiency anemia OMIM:226300
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Decreased ... ORPHA:760
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Celiac disease, Achalasia, Colitis OMIM:618969
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Diffuse Alveolar Hemorrhage
Anemia, Antiphospholipid antibody positivity, Leukocytosis, Rheumatoid factor positive, Antinucle... ORPHA:90060
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Polycythemia Vera
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis ORPHA:729
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... OMIM:613960
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Failure to thrive, Weight loss, Thrombocytosis OMIM:212750
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Weight loss ORPHA:134
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Skin rash, Enterocolitis, Failure to thrive, Secretory diarrhea, Feeding diffi... OMIM:616050
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Failure to thri... OMIM:209920
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Leukocytosis, Leukopenia, Weight loss, Thrombocytosis ORPHA:20
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Poems Syndrome
Polycythemia, Thrombocytosis, Splenomegaly, Weight loss ORPHA:2905
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Weight loss, Decreased proportion of memor... OMIM:301074
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... ORPHA:275
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Memb... OMIM:618999
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis OMIM:618394
Interstitial Lung And Liver Disease
Failure to thrive, Thrombocytosis, Anemia OMIM:615486
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Thrombocytosis OMIM:212065
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Immunodeficiency 22
Anemia, Decreased circulating IgE, Autoimmunity, Decreased circulating IgG level, Decreased propo... OMIM:615758
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Autoimmunity, Increased total bilirubin, Systemic lupus erythematosus ORPHA:90036
Trichohepatoenteric Syndrome 1
Failure to thrive, Increased mean platelet volume, Splenomegaly, Thrombocytosis, Small for gestat... OMIM:222470
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, Th... OMIM:615688
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Failure to thrive, Neutrophilia, Hepatosplenom... ORPHA:3260
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Villous atrophy, Chronic diarrhea, Thyroiditis, Colitis, Arthr... OMIM:614700
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Chr... OMIM:618131
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Failure to thrive, Decreased pineal volume OMIM:301108
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Enterocolitis OMIM:614878
Syndromic Diarrhea
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytos... ORPHA:84064
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis OMIM:613101
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Weight loss, Ga... ORPHA:67
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, ... ORPHA:3261
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Rheumatoid arthritis, Thromb... ORPHA:100026
Shigellosis
Anorexia, Myocarditis, Acute colitis, Abdominal pain, Arthritis, Intestinal perforation, Bloody d... ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal intestine morphology, Psoriasiform dermatitis, Dependency on intravenous nutri... ORPHA:37042
Brucellosis
Anemia, Leukocytosis, Failure to thrive, Leukopenia, Splenomegaly, Weight loss, Thrombocytopenia,... ORPHA:1304
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Skin rash, Palmoplantar pustulosis, Poor appetite, Inflammation of the large intestine... ORPHA:324964
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis,... ORPHA:436159
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Colitis OMIM:301220
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Abdominal pain, Fulminant h... ORPHA:2137
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Pancreatitis, Recurrent pancreatitis OMIM:615947
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, W... ORPHA:309031
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Otitis media, Peritoni... ORPHA:2686
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... ORPHA:90038
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia... OMIM:617718
Kawasaki Disease
Thrombocytosis, Leukocytosis ORPHA:2331
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Anorexia, Intractable diarrhea, A... OMIM:619381
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... ORPHA:793
Hermansky-Pudlak Syndrome 1
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine OMIM:203300
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam... ORPHA:29207
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Thymoma
Myositis, Rheumatoid arthritis, Weight loss, Neoplasm of the gastrointestinal tract, Ulcerative c... ORPHA:99867
Iga Pemphigus
Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... ORPHA:2968
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Maculopapular exanthe... ORPHA:540
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Doors Syndrome
Thrombocytosis ORPHA:79500
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Abnormality of the anus, Esophagitis, Inflammation of the large intesti... ORPHA:2908
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Eczemato... ORPHA:391487
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... ORPHA:544482
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Pancreatitis, Periodontitis, Diarrhea, Thyroiditis, Hepatocellular carcin... ORPHA:79259
Primary Sclerosing Cholangitis
Pancreatitis, Neoplasm of the gallbladder, Cholelithiasis, Abnormal large intestine physiology, A... ORPHA:171
Plague
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... ORPHA:707
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Abnormal ductus choledochus morphology, Inflammation of the large intesti... ORPHA:562639
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ... ORPHA:90068
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Necrotizing enterocolitis, Cleft palate, Secretory diarrhea, Feeding difficultie... OMIM:619573
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Abdominal pain, Arthritis, Parotitis, Congenital hydrocele, Atopic dermatitis, Failure ... OMIM:620376
Mowat-Wilson Syndrome
Aganglionic megacolon, Recurrent otitis media, Cleft hard palate, Decreased body weight, Bowel in... 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 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TRABID inhibition activates cGAS/STING-mediated anti-tumor immunity through mitosis and autophagy dysregulation. Nature communications (May 2023) Zranb1tm1a(EUCOMM)Hmgu PMC10220035
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)