Not currently registered for phenotyping at IMPC

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

Gene Summary

dehydrogenase/reductase (SDR family) member 7B

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 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
Matching phenotypes Source
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Esophageal varix, Splenomegaly OMIM:617068
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Oculogastrointestinal Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruct... ORPHA:1876
Barrett Esophagus
Barrett esophagus, Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma OMIM:614266
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Dysphagia, Esophageal furrows, Esophagitis, Abnormal peristalsis, Esophageal... ORPHA:411696
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Wolman Disease
Hepatomegaly, Esophageal varix, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea ORPHA:75233
Cirrhosis, Familial
Esophageal varix OMIM:215600
Retinitis Pigmentosa 89
Hepatosplenomegaly, Esophageal varix OMIM:618955
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Colitis, Esophageal stenosis, Leukopenia OMIM:615190
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia OMIM:619463
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Spontaneous esophageal perforation, Anemia, Esophageal stricture, Flexion contracture,... OMIM:226600
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Cryptorchidism, Abnormal stomach morphology ORPHA:281090
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Esophageal stenosis, Oral leukoplakia, Pancytopenia, Aplastic anemia OMIM:616553
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Glycogen Storage Disease Iv
Hepatosplenomegaly, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Esophageal varix OMIM:232500
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Malabsorption, Splenomegaly, Intest... ORPHA:131
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the diaphragm ORPHA:2357
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Esophageal atresia OMIM:615272
Non-Syndromic Posterior Hypospadias
Cleft palate, Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Cryptorchidism ORPHA:95706
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Gastric varix, Splenomegaly, Gast... ORPHA:64743
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Esophageal varix, Neonatal death, Splenomegaly, Enlarged kidney OMIM:263200
Plummer-Vinson Syndrome
Dysphagia, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Tongue atrophy,... ORPHA:54028
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Myopathy, Skeletal muscle atrophy, Esophageal varix, Abnormal muscle glycogen conte... ORPHA:367
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Esophageal varix, Hepatocellular carcinoma, Increased sarc... ORPHA:370
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Esophageal varix, Splenomegaly OMIM:616028
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dysphagia, Skeletal muscle atrophy, Anemia, Ankyloglossia, Esophageal stricture, Anal fissure, Es... ORPHA:89842
Myopathy, Abnormality of the small intestine, Abnormal large intestine morphology, Facial palsy, ... ORPHA:801
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Esophageal varix, Leukopenia, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatos... OMIM:278000
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Rectovaginal fistula, Es... ORPHA:2538
Benign Schwannoma
Abnormal parotid gland morphology, Facial palsy, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Caroli Disease, Isolated
Hepatomegaly, Esophageal varix OMIM:600643
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Splenomegaly, Pancytopenia, ... OMIM:614576
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Achalasi... ORPHA:1018
Noonan Syndrome 7
Dysphagia, Impaired oropharyngeal swallow response, Abnormal esophagus morphology OMIM:613706
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Eosinophilia, Neutropenia, Abnormal esophagus morphology ORPHA:1163
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Esophageal varix, Increased sarcoplasmic glycogen, Hepatoc... ORPHA:264580
Wilson Disease
Hepatomegaly, Dysphagia, Hypoparathyroidism, Esophageal varix, Hepatocellular carcinoma, Hemolyti... OMIM:277900
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Abse... OMIM:156810
Coach Syndrome 1
Hepatomegaly, Esophageal varix, Splenomegaly OMIM:216360
Cholestasis, Progressive Familial Intrahepatic, 8
Bile duct proliferation, Hepatomegaly, Esophageal varix OMIM:619662
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Adams-Oliver Syndrome
Thrombocytopenia, Gastrointestinal hemorrhage, Esophageal varix, Leukopenia ORPHA:974
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnormal stomach morphology, Intuss... ORPHA:512
Caroli Disease
Leukocytosis, Hepatomegaly, Esophageal varix, Cholangiocarcinoma, Cholelithiasis, Splenomegaly ORPHA:53035
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Esophageal varix, Leukopenia, Lymphadenopathy, Bone m... OMIM:615688
Caroli Syndrome
Leukocytosis, Hepatomegaly, Esophageal varix, Cholangiocarcinoma, Leukopenia, Melena, Hyperspleni... ORPHA:480520
Dyskeratosis Congenita
Hepatomegaly, Neoplasm of the pancreas, Malabsorption, Bone marrow hypocellularity, Splenomegaly,... ORPHA:1775
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Esophageal varix, Polycythemia, Splenomegaly, Hypomimic face ORPHA:309854
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Hamartoma of tongue, Neonatal death, Absent gallbladder, Anal atresia, Esophageal d... OMIM:617925
Autosomal Recessive Polycystic Kidney Disease
Esophageal varix, Cholangiocarcinoma, Pancreatic cysts, Hepatoblastoma, Splenomegaly, Biliary hyp... ORPHA:731
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Cholelithiasis, Gastrointestinal hemorrhage, Microcytic anemia, Intestinal poly... ORPHA:774
Chronic Graft Versus Host Disease
Abnormal esophagus physiology, Dysphagia, Xerostomia, Esophageal ulceration, Esophageal stricture... ORPHA:99921
Hardikar Syndrome
Bilateral cleft lip and palate, Hepatomegaly, Esophageal varix, Celiac disease, Cleft soft palate... OMIM:301068
Lysosomal Acid Lipase Deficiency
Esophageal varix, Vacuolated lymphocytes, Bone-marrow foam cells, Anemia, Hepatosplenomegaly, Hyp... ORPHA:275761
Classic Homocystinuria
Hepatomegaly, Gastrointestinal hemorrhage, High palate, Esophageal varix ORPHA:394
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Gastric ulcer, Esophageal varix, Anemia, Cholelithiasis, Splenomegaly,... ORPHA:2072
Kindler Syndrome
Anal stenosis, Dysphagia, Esophageal stenosis, Oral leukoplakia OMIM:173650
Senior-Boichis Syndrome
Hepatosplenomegaly, Anemia, Esophageal varix ORPHA:84081
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dysphagia, Iron deficiency anemia, Joint contractures involving the joints of the feet, Esophagea... ORPHA:79408
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Esophageal varix, Polycythemia, Anemia, Abnormal rectum morphology,... ORPHA:88673
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Esophageal varix, Bile duct proliferation, Anemia, Intestinal malrotation, Pancytope... OMIM:613658
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration, Premature ovarian insufficiency OMIM:176690
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dysphagia, High palate, Hip contracture, Esophageal varix, Cleft soft palate, Thyroid hypoplasia,... OMIM:619503
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Esophageal varix, Bile duct proliferation, Neonatal death, Splenomegaly, Anterior p... OMIM:619534
Alström Syndrome
Hyoplasia of the Leydig cells, Hepatomegaly, Esophageal varix, Polycystic ovaries, Splenomegaly, ... ORPHA:64


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.

No publications found that use IMPC mice or data for Dhrs7b.

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MGI Allele Allele Type Produced
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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