Not currently registered for phenotyping at IMPC

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

Gene Summary

ets homologous factor

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Ehf 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 Ehf by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Diarrhea 9
Villous atrophy OMIM:618168
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy OMIM:251850
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Jejunal Atresia
Jejunal atresia OMIM:243600
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules OMIM:619445
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy OMIM:614162
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Decreased int... OMIM:615237
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... ORPHA:95427
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Elevat... ORPHA:92050
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Villous atrophy OMIM:602579
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Duodenal Atresia
Duodenal atresia OMIM:223400
Netherton Syndrome
Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Trichohepatoenteric Syndrome 2
Colitis, Villous atrophy OMIM:614602
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Bifid uvula OMIM:601110
Refractory Celiac Disease
Jejunitis, Protein-losing enteropathy, Villous atrophy, Malabsorption ORPHA:398063
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption, Premature ovarian insufficiency ORPHA:100025
Bare Lymphocyte Syndrome, Type Ii
Colitis, Villous atrophy, Malabsorption OMIM:209920
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Fat malabsorption ORPHA:309108
Primary Intestinal Lymphangiectasia
Functional abnormality of the gastrointestinal tract, Intestinal lymphangiectasia, Abnormality of... ORPHA:90362
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... OMIM:601346
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time OMIM:619377
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Intussusception OMIM:147710
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Colitis OMIM:614700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Congenital shortened small intestine, Intestinal malrotation, Intestinal pseudo... OMIM:300048
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Colonic Atresia
Colonic atresia, Duodenal stenosis, Peptic ulcer ORPHA:1198
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Eosinophilic Gastroenteritis
Dysphagia, Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Protein-losing ... ORPHA:2070
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula OMIM:223330
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Malabsorption, Intestinal malrotation,... OMIM:615710
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer OMIM:616744
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Villous atrophy, Cholelithiasis ORPHA:567983
Fat malabsorption OMIM:200100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Gastrointestinal carcinoma, Malabsorption, Glossitis, Hamartomatous polyposis, Protei... OMIM:175500
Syndromic Diarrhea
Villous atrophy, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Colitis ORPHA:84064
Hypoplastic nipples, Villous atrophy, Bifid uvula, Hypoplasia of the ovary, Gastroesophageal reflux ORPHA:79328
Trichohepatoenteric Syndrome 1
Villous atrophy, Bifid uvula OMIM:222470
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Villous atrophy, Esophageal carcinoma, Enterocolitis ORPHA:391487
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Macroglossia, Protein-losing enteropathy ORPHA:79320
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Protein-losing enteropathy OMIM:608104
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Immunodeficiency 87 And Autoimmunity
Increased fecal calprotectin level, Necrotizing enterocolitis, Cleft palate, Villous atrophy OMIM:619573
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Annular pancreas, Volvulus, Intestinal malrotation, Ana... ORPHA:210122
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Fat malabsorption ORPHA:79302
Protein-losing enteropathy ORPHA:95428
Abnormal large intestine morphology, Abnormality of the small intestine, Abnormal stomach morphol... ORPHA:801
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Gastritis, Crohn's disease, Anoperineal fistula, Colitis OMIM:619381
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Melena, Intussusception, Gas... ORPHA:79076
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption OMIM:211600
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Morphological abnormality of the gastrointestinal tract ORPHA:2847
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum ORPHA:777
Chylomicron Retention Disease
Steatorrhea, Fat malabsorption ORPHA:71
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Fat malabsorption OMIM:607765
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Juvenile Polyposis Syndrome
Intestinal polyp, Rectal polyposis, Juvenile gastrointestinal polyposis, Stomach cancer, Neoplasm... ORPHA:2929
Abnormal jejunum morphology ORPHA:449280
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Cleft palate, Pancreatic lymphangiectasis, Cryptorchidism, Protein-losing enteropathy OMIM:235255
Storm Syndrome
Fat malabsorption OMIM:185069
Oculoskeletodental Syndrome
Macroglossia, Cryptorchidism, Protein-losing enteropathy OMIM:618440
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnormal stomach morphology, Intuss... ORPHA:512
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Fat malabsorption ORPHA:79303
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Intestinal lymphangiectasia, Narrow palate, Cryptorchidism, Protein-losing enter... OMIM:235510
Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation ORPHA:1666
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Protein-losing enteropathy, Hematochezia OMIM:618183
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Cleft palate, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Abnormal duoden... OMIM:601776
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, High palate, Protein-losing enteropathy, Pancreatic lymphangiectasis ORPHA:1655
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine OMIM:200995
Whim Syndrome
Abnormality of the small intestine, Parotitis ORPHA:51636
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, Cryptorchidism, Abnormal duodenum morphology ORPHA:2886
Isolated Biliary Atresia
Atretic gallbladder, Bile duct proliferation, Fat malabsorption, Hypopituitarism ORPHA:30391
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Esophageal varix, Cholangiocarcinoma, Hepatoblastoma, Biliary hyperplasia, Gast... ORPHA:731
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Meckel diverticulum, Duodenal atresia, Annular pancreas, Congenital shortened small... OMIM:265380
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Cleft palate, Duodenal atresia, Meckel divertic... OMIM:229850
Colon perforation, Colitis, Melena, Gastritis, Gastrointestinal hemorrhage, Enterocolitis, Unusua... ORPHA:73263
Fraser Syndrome 1
Abnormality of the anus, Cryptorchidism, Cleft palate, Abnormality of the small intestine OMIM:219000
Mosaic Trisomy 16
Anteriorly placed anus, Meckel diverticulum, Abnormality of the gastrointestinal tract ORPHA:1708
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349


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 Ehf

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 Ehf.

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

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MGI Allele Allele Type Produced
Ehftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ehfem1(IMPC)KMPC Indel Mice

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