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Gene: Dhrs7b MGI:2384931

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Gene Summary

Name:
dehydrogenase/reductase 7B
Synonyms:
dehydrogenase/reductase (SDR family) member 7B

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
preweaning lethality, complete penetrance Dhrs7bem1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Dhrs7bem1(IMPC)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Dhrs7b 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 Dhrs7b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix OMIM:617068
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Flexion contracture, Congenital pyloric atresia OMIM:612138
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Esophageal varix ORPHA:75234
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Anemia ORPHA:75233
Retinitis Pigmentosa 89
Esophageal varix, Hepatosplenomegaly OMIM:618955
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia OMIM:616553
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity OMIM:615190
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular carcinoma, Thrombocytopenia OMIM:619463
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Esophageal varix, Bone marrow hypocellularity, Abnorma... OMIM:617341
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Abnormal esophagus... OMIM:226600
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Acute leukemia, Abnormal stomach morphology ORPHA:281090
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Esophageal varix, Hepatosplenomegaly OMIM:232500
Bronchogenic Cyst
Abnormal esophagus morphology, Abnormality of the diaphragm, Dysphagia, Abnormal stomach morphology ORPHA:2357
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, E... ORPHA:131
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Cryptorchidism, Cleft palate, Anal atresia ORPHA:95706
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Thrombocytopenia, Esophageal varix, Leu... ORPHA:64743
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture, Esophageal varix, Abnormal muscle gly... ORPHA:367
Plummer-Vinson Syndrome
Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... ORPHA:54028
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix OMIM:616589
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac... ORPHA:89842
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Bone marrow hypocellularity OMIM:615272
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Hypersplenism, Splenomegaly, Thrombocytopenia, Esophageal v... OMIM:278000
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal ... ORPHA:2538
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix, Neonatal death, Enla... OMIM:263200
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Splenomegaly, Esophageal varix, Inflammation of the large intestine, ... OMIM:614576
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia OMIM:613706
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... ORPHA:1018
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Aspergillosis
Eosinophilia, Abnormal esophagus morphology, Neutropenia ORPHA:1163
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy... ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Bile duct proliferation, Esophageal varix OMIM:619662
Coach Syndrome 1
Splenomegaly, Hepatomegaly, Esophageal varix OMIM:216360
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Facial palsy, Abnormal esophagus morphology ORPHA:252164
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor... ORPHA:1775
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Esophageal varix, Thrombocytopenia ORPHA:974
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... ORPHA:512
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Splenomegaly, Leukocytosis, Esophageal varix, Hepatosplenomegaly, Lym... OMIM:615688
Cirrhosis, Familial
Esophageal varix OMIM:215600
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Hematemesis, Hypersplenism, Leukocytosis, Esophageal varix, Mel... ORPHA:480520
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Leukocytosis, Esophageal varix, Cholelithiasis ORPHA:53035
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Splenomegaly, Esophageal varix, Polycythemia, Hypomimic face ORPHA:309854
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Hepatocellular carcinoma, Splenomegaly, Throm... OMIM:277900
Hardikar Syndrome
Hepatomegaly, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Splenomegal... OMIM:301068
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Microcytic anemia, Esophageal varix, Cholelith... ORPHA:774
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Neonatal death, A... OMIM:617925
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Splenomegaly, Hypersplenism... ORPHA:731
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Esophageal stenosis, Dysphagia OMIM:615510
Chronic Graft Versus Host Disease
Pancytopenia, Esophageal stricture, Flexion contracture, Xerostomia, Abnormal esophagus morpholog... ORPHA:99921
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, Esophageal varix, Hepatosplenomega... ORPHA:275761
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia OMIM:173650
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix, High palate ORPHA:394
Senior-Boichis Syndrome
Esophageal varix, Anemia, Hepatosplenomegaly ORPHA:84081
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Esophageal varix, Hepato... ORPHA:2072
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Intestinal malrotation, Esophageal varix, Gastroesophageal reflux, High palate, Bil... OMIM:613658
Arima Syndrome
Hepatomegaly, Esophageal varix, Anemia OMIM:243910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Hip contracture, Cleft soft palate, Decreased response to growth hormone stimul... OMIM:619503
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Anterior pituitary hypoplasia, Splenomegaly, Esophageal varix, Gastroesophageal ref... OMIM:619534
Alström Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Testicular fibrosis, Splenom... ORPHA:64

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 Dhrs7b

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 Dhrs7b.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Gene-disease associations identify a connectome with shared molecular pathways in human cholangiopathies. Hepatology (Baltimore, Md.) (September 2017) Dhrs7btm1a(EUCOMM)Hmgu 28865156
PexRAP Inhibits PRDM16-Mediated Thermogenic Gene Expression. Cell reports (September 2017) Dhrs7btm1a(EUCOMM)Hmgu PMC5679740

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dhrs7bem1(IMPC)Mbp Exon Deletion Mice, Tissue
Dhrs7btm39122(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dhrs7btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dhrs7btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dhrs7btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dhrs7btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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