Gene Summary

Name:
EH domain binding protein 1-like 1
Synonyms:
G430002G23Rik

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, complete penetrance Ehbp1l1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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 Skull Dorso Ventral Orientation

15 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 83 images

Human diseases caused by Ehbp1l1 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 Ehbp1l1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Death in infancy, Abnormal intestine morphology OMIM:251850
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 9
Villous atrophy OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions OMIM:619445
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immunodeficiency 31C
Autoimmune hemolytic anemia, Villous atrophy, Lymphopenia, Abnormal intestine morphology OMIM:614162
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Jejunal Atresia
Jejunal atresia OMIM:243600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Miscarriage, Decreased mean co... ORPHA:2133
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Refractory Celiac Disease
Malabsorption, Increased proportion of HLA DR+ T cells, Normocytic anemia, Macrocytic anemia, Iro... ORPHA:398063
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat... OMIM:616050
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... OMIM:261000
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill... ORPHA:95427
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... ORPHA:2978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Villous atrop... OMIM:304790
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Abnormality of the small intestine, Splenomegaly ORPHA:100025
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Congenital Disorder Of Glycosylation, Type Ib
Death in childhood, Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Netherton Syndrome
Villous atrophy, Hypereosinophilia, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effecto... ORPHA:90362
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea ORPHA:309108
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Nephronophthisis
Anemia ORPHA:655
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Malabsorption, Neutropenia, Sideroblastic anemia, Steatorrhea, Death in child... OMIM:557000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Colitis, Neutropenia OMIM:209920
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of the large intestine, B lympho... OMIM:614700
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Bifid uvula OMIM:601110
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Stuve-Wiedemann Syndrome 2
Death in adolescence, Neonatal death, Dysphagia, Thrombocytopenia, Stillbirth OMIM:619751
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Villous atrophy, Auto... OMIM:606367
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Duodenal atresia, Intestinal atresia ORPHA:3405
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Eosinophilia, Abnormality of the gastrointestinal tract... ORPHA:2070
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... OMIM:615237
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Abcd Syndrome
Polycythemia, Total intestinal aganglionosis, Neonatal death, Aganglionic megacolon OMIM:600501
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis OMIM:619817
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Osteootohepatoenteric Syndrome
Anemia, Villous atrophy, Ileoileal intussusception, Increased intestinal transit time OMIM:619377
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstr... OMIM:300048
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia OMIM:277175
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Hyperplastic colonic polyposis, Intussusce... ORPHA:157794
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Solitary Rectal Ulcer Syndrome
Stercoral ulcer, Hematochezia, Rectal prolapse, Anemia, Anal fissure ORPHA:209964
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Duodenal Atresia
Duodenal atresia OMIM:223400
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Death in childhood, Thrombocytosis, Villous atrophy, Death in infancy OMIM:212065
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Enterocolitis, Hepatosplenomeg... ORPHA:391487
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Wolman Disease
Splenomegaly, Steatorrhea, Esophageal varix, Anemia, Bone-marrow foam cells ORPHA:75233
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Neoplasm of t... ORPHA:2869
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia,... OMIM:618849
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia, Gastroint... OMIM:175500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Anemia, Splenomegaly, Steatorrhea OMIM:612714
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Immunodeficiency 87 And Autoimmunity
Increased fecal calprotectin level, Lymphopenia, Cleft palate, Necrotizing enterocolitis, Thrombo... OMIM:619573
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:616738
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Protein-losing enteropathy, Death in infancy, Anemia, Thrombocytopenia OMIM:608104
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythro... ORPHA:98870
Hydatidiform Mole
Anemia, Miscarriage ORPHA:99927
Syndromic Diarrhea
Colitis, Gastritis, Hepatoblastoma, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increase... ORPHA:84064
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Neonatal death, Death in infancy, Jejunal atresia, Microcolon, Volvulus OMIM:609313
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Rh Deficiency Syndrome
Hypochromia, Miscarriage, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hem... ORPHA:71275
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Decreased proportion of naive T cells, Colitis, Gastritis, Splenomegaly, Duodena... OMIM:619381
Trichohepatoenteric Syndrome 1
Splenomegaly, Bifid uvula, Increased mean platelet volume, Thrombocytosis, Villous atrophy OMIM:222470
Sandifer Syndrome
Gastroesophageal reflux, Hematemesis, Hiatus hernia, Esophagitis, Anemia ORPHA:71272
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Splenomegaly ORPHA:567983
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Icf Syndrome
Malabsorption, Lymphopenia, Macroglossia, Abnormality of neutrophils, Protruding tongue, Anemia ORPHA:2268
Gamma-Heavy Chain Disease
Splenomegaly, Anemia, Autoimmune thrombocytopenia, Dysphagia, Abnormal lymphocyte morphology, Thr... ORPHA:100026
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Alg9-Cdg
Villous atrophy, Gastroesophageal reflux, Bifid uvula ORPHA:79328
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Neonatal death OMIM:619362
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Malabsorption, Lymphopenia, Aganglionic megacolon ORPHA:935
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Juvenile Polyposis Syndrome
Small intestinal polyposis, Intussusception, Stomach cancer, Intestinal polyp, Neoplasm of the sm... ORPHA:2929
Whim Syndrome
Lymphopenia, Abnormality of the small intestine, Neutropenia, Parotitis, Abnormality of neutrophi... ORPHA:51636
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Hematochezia, Anemia, Gastrointestinal carcinoma, Hamartomat... OMIM:175050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoesophageal fistula, ... OMIM:265380
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Splenomegaly, Hepatosplenomegaly, Esophageal varix, Fat malab... ORPHA:731
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia OMIM:618183
Fraser Syndrome 1
Abnormality of the small intestine, Cleft palate, Abnormality of the anus OMIM:219000

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 Ehbp1l1

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 Ehbp1l1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ehbp1l1tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ehbp1l1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ehbp1l1tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)