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Gene: Enpp7 MGI:3027917

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ectonucleotide pyrophosphatase/phosphodiesterase 7
Synonyms:
LOC238011,  Alk-SMase

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Enpp7 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 Enpp7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea OMIM:615863
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Jejunal Atresia
Jejunal atresia OMIM:243600
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption OMIM:600955
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea OMIM:246700
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis OMIM:614602
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea OMIM:602579
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis OMIM:616050
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula OMIM:601110
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis ORPHA:398063
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Protracted diarrhea, Malabsorption OMIM:209920
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Chronic diarrhea, Vomiting OMIM:619510
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... ORPHA:90362
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Villous atrophy, Ileus OMIM:304790
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... OMIM:619377
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Protein-losing enteropathy ORPHA:103910
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colitis OMIM:614700
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Pr... ORPHA:2070
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Duodenal Atresia
Duodenal atresia OMIM:223400
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... OMIM:601346
Immunodeficiency 31C
Villous atrophy, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussuscep... OMIM:614162
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea OMIM:606367
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Pancreatic fibrosis, Malabsorption, Chronic diarrhea, Vomiting, Steatorrhea, Exo... OMIM:557000
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Vomiting, Diarrhea, Steatorrhea OMIM:212065
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Megaduodenum OMIM:611376
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy ORPHA:567983
Syndromic Diarrhea
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepatoblastoma, I... ORPHA:84064
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Abnormal intestine morphology ORPHA:391487
Intussusception
Intussusception OMIM:147710
Alg9-Cdg
Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples,... ORPHA:79328
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Villous atrophy, Bifid uvula OMIM:222470
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... OMIM:619573
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... OMIM:619381
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa... OMIM:155310
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636

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 Enpp7

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 Enpp7.

No publications found that use IMPC mice or data for Enpp7.

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MGI Allele Allele Type Produced
Enpp7tm446406(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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