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Gene: Entpd8 MGI:1919340

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Gene Summary

Name:
ectonucleoside triphosphate diphosphohydrolase 8
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Entpd8tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Entpd8tm1.1(KOMP)Vlcg HOM Early adult 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

11 Images

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Adult LacZ

LacZ Images Section

27 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Hind Leg and Hip

11 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Human diseases caused by Entpd8 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 Entpd8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous fistula, Rectovaginal ... OMIM:612567
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... OMIM:619281
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Immunodeficiency 70
Celiac disease, Recurrent sinusitis, Achalasia, Colitis, Furuncle OMIM:618969
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Abnormal small intest... ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis OMIM:614878
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... OMIM:616050
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... OMIM:616433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Psoriasif... OMIM:243150
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Recurrent infection of the gastroint... ORPHA:911
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Sclerosing cholangitis, Glomeru... ORPHA:2137
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... ORPHA:810
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... ORPHA:2686
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Bloody diarrhea, Protracted diarrhea, Intestinal obstruction, Constrictive pericarditis... ORPHA:67
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Immunodeficiency 97 With Autoinflammation
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Abdominal pain, Enterocolitis, Colitis, ... OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Re... ORPHA:98813
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Vomiting, Diarrhea, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Abdominal pain, ... ORPHA:90038
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Patent ductus arteriosus, Esophageal varix OMIM:614576
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapula... ORPHA:540
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Abdomina... ORPHA:309031
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... OMIM:617718
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Vomiting, Diarrhea, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... ORPHA:544482
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... OMIM:615895
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Pancolitis, Eosinophilic infiltration of the esophagus, Perianal abscess, Bl... OMIM:618213
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Villous atrophy, Gastritis, Hepatoblastoma, Dependency on ... ORPHA:84064
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... ORPHA:99867
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Plague
Inflammation of the large intestine, Vomiting, Diarrhea, Lymphadenitis, Chapped lip, Skin rash, I... ORPHA:707
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Vomiting, Abdominal distention, Eczematoid dermatitis, Mala... ORPHA:3260
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... ORPHA:79259
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulonephritis, ... ORPHA:3261
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failure, Pancreatitis,... ORPHA:171
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... ORPHA:906
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Recurrent pneumonia, Eczematoid dermatitis, Recurr... OMIM:301000
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... OMIM:232220
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Ulcerative colitis, Feeding difficulties in infancy, High p... OMIM:617137
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Parotitis, Abdominal pain, Arthritis, Conjunctivitis, Colitis, Epidi... OMIM:620376
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... OMIM:232240
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Fumarase Deficiency
Hepatic failure, High palate, Necrotizing enterocolitis OMIM:606812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:614921
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... OMIM:619573
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... OMIM:602782
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Mucopolysaccharidosis Type 3
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... ORPHA:581
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Arthritis, Anorexia, Abnormal salivary gland ... OMIM:181000
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Ogden Syndrome
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... OMIM:300855
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Inflammation of the large intestine ORPHA:70591
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Bardet-Biedl Syndrome
Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... ORPHA:110
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly ORPHA:51
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... ORPHA:2152
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... OMIM:619991
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect ORPHA:3472
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... ORPHA:116
Williams Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defec... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification ORPHA:51608

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 Entpd8

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 Entpd8.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
NTPDase8 protects mice from intestinal inflammation by limiting P2Y6 receptor activation: identification of a new pathway of inflammation for the potential treatment of IBD. Gut (January 2021) Entpd8tm1(KOMP)Vlcg 33452178

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Entpd8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Entpd8tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Entpd8tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Entpd8tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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