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Gene: Hsd17b7 MGI:1330808

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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:
hydroxysteroid (17-beta) dehydrogenase 7
Synonyms:
ERG27

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 Hsd17b7 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 Hsd17b7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... ORPHA:60041
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... OMIM:614702
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Short neck, Cardiomegaly, Patent ductus arteriosus, Pericardia... OMIM:239850
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Short neck OMIM:613885
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Congenital Disorder Of Glycosylation, Type Il
Edema, Short neck, Pericardial effusion, Abnormal cardiac septum morphology, Ascites OMIM:608776
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Cerebe... OMIM:617822
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis... OMIM:619313
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... OMIM:271530
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... ORPHA:750
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Short tibia, Short 4th metacarpal, S... OMIM:118651
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hyd... OMIM:617967
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal... OMIM:620070
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Acromicric Dysplasia
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... OMIM:102370
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... ORPHA:363705
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck ORPHA:1131
Meckel Syndrome, Type 4
Encephalocele, Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Hy... OMIM:611134
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Intrauterine growth retardation, Truncus a... OMIM:615583
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... OMIM:608728
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Increased circulating free fatty acid... ORPHA:26793
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites ORPHA:36412
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... OMIM:235510
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... OMIM:609616
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... OMIM:618775
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy ORPHA:300751
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Diastrophic Dysplasia
Hip contracture, Flattened epiphysis, Genu valgum, Ulnar deviation of finger, Irregular epiphyses... OMIM:222600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Molar tooth si... OMIM:614815
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Nonimmu... OMIM:212065
Hypochondroplasia
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Trident hand, Genu varum OMIM:146000
Pseudoachondroplasia
Short metacarpal, Brachydactyly, Ulnar metaphyseal irregularity, Irregular carpal bones, Delayed ... OMIM:177170
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, I... OMIM:619487
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong... OMIM:618280
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Ascites, Pedal edema ORPHA:77259
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Alg9-Cdg
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Hypoplasia of the musculature... ORPHA:79328
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Capitate-hamate fusion, Short toe, Genu valgum, Short foot, Hip dysplasia, Shor... OMIM:614078
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Camptodactyly, Ankle flexion contracture, Knee flexion contracture ORPHA:435938
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S... ORPHA:93316
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Poems Syndrome
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:2905
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Metaphyseal widening, Flat acetabular roof, Cone-shaped epiphyse... OMIM:184260
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema ORPHA:199241
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Pericardial effusion, Mitral valve prolapse, Webbed neck, Umbilical hernia ORPHA:536532
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Metaphyseal cupp... OMIM:614524
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Patent ductus arteriosus, Hydrocephalus, Chiari type I malfor... ORPHA:1272
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Laron Syndrome
Short long bone OMIM:262500
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... ORPHA:781
Kaposiform Lymphangiomatosis
Pericardial effusion, Abnormality of the neck, Pleural effusion ORPHA:464329
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Myhre Syndrome
Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Generalize... OMIM:139210
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Camptodactyly OMIM:619751
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... OMIM:614424
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Pulmonary edema ORPHA:73224
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left ... OMIM:619562
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses ORPHA:1423
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Intr... ORPHA:261330
Hennekam Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Lymphedema, Pericardial effusion, Hydrops fet... ORPHA:2136
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Coarse metaphyseal tra... OMIM:618961
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Palpebral edema, Camptodactyly of finger, Patent du... ORPHA:261337
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Hypertriglyceridemia, Edema ORPHA:167
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Limb hypertonia, Intrauterine growth retardation, Hypertrophic cardi... OMIM:615846
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... OMIM:300106
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Abnormal heart morphology, Lateral ventricle di... ORPHA:356961
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification... ORPHA:93346
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... ORPHA:2256
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... ORPHA:457395
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites ORPHA:538
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, H... OMIM:616546
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Metaphyseal widen... OMIM:615777
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Facial palsy, Polyhydramnios, Atrial septal defect, Intrauterine gro... OMIM:620186
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... ORPHA:239
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Large tarsal bones, Flared metaphysis, Prominent interphalangeal joints, Sh... OMIM:215150
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... OMIM:611717
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... OMIM:187600
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Dysplastic aortic valve, Atrioventricular ... ORPHA:508488
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Sho... ORPHA:93352
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Metaphyseal widening, Advanced ossification of carpal... OMIM:224400
Gitelman Syndrome
Primary hyperaldosteronism, Pericardial effusion, Rhabdomyolysis ORPHA:358
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Fibrochondrogenesis 1
Hypoplastic scapulae, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia, Broad isch... OMIM:228520
Tsh-Secreting Pituitary Adenoma
Pericardial effusion ORPHA:91347
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hydrops fetal... ORPHA:51608
Xylt1-Cdg
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... ORPHA:370930
Crimean-Congo Hemorrhagic Fever
Pericardial effusion, Ascites, Myocarditis, Stiff neck ORPHA:99827
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Flared metaphysis, Femoral bow... OMIM:618019
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Clubbing of fingers, Sho... OMIM:156400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca... OMIM:271640
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Microphthalmia With Limb Anomalies
Finger syndactyly, Bowing of the long bones, Toe syndactyly, Sandal gap, Tarsal synostosis, Abnor... ORPHA:1106
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Abnormal midbrain morphology, Hypoplasia of the pons, Mitral valve pro... ORPHA:444072
Duplication Of The Pituitary Gland
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology, Polyhydramnios ORPHA:314621
Multiple Osteochondromas
Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:321
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... OMIM:225500
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal d... OMIM:615948
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... OMIM:164210
Branchiooculofacial Syndrome
Facial palsy, Short neck, Elbow flexion contracture, Low posterior hairline, Branchial anomaly, I... OMIM:113620
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... ORPHA:68
Witteveen-Kolk Syndrome
Branchial fistula, Congenital diaphragmatic hernia, Polyhydramnios, Contracture of the distal int... OMIM:613406
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Cer... ORPHA:79139
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... ORPHA:93357
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Bowing of the legs, Hip subluxation, Metatarsus adductus, Fla... OMIM:271665
Pmm2-Cdg
Pericarditis, Cerebellar vermis hypoplasia, Lymphedema, Pericardial effusion, Anasarca, Cerebella... ORPHA:79318
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Pyknoachondrogenesis
Short iliac bones, Abnormal iliac wing morphology, Short long bone, Aplastic pubic bone, Hypoplas... ORPHA:3003
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Abnormal tendon morphology, Myocardial steatosis, Hyperchol... ORPHA:391665
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987

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 Hsd17b7

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 Hsd17b7.

No publications found that use IMPC mice or data for Hsd17b7.

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
Hsd17b7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hsd17b7tm39985(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hsd17b7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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