Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
PR domain containing 6
Synonyms:
LOC225518,  PRISM

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Prdm6 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.

The table below shows human diseases associated to Prdm6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039

The table below shows human diseases predicted to be associated to Prdm6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Endoca... ORPHA:60041
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Pallor ORPHA:90064
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Optic Atrophy 1
Pallor OMIM:165500
Breath-Holding Spells
Pallor OMIM:607578
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Pallor OMIM:613561
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Hemoglobin D Disease
Pallor ORPHA:90039
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Pallor ORPHA:49827
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Cardiomyopathy, Pallor ORPHA:3386
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Myocarditis, Aplasia/Hypoplasia of the abdominal w... ORPHA:3099
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Retinitis Pigmentosa 51
Pallor OMIM:613464
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Myelofibrosis
Pallor, Purpura OMIM:254450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor OMIM:600462
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Irida Syndrome
Pallor ORPHA:209981
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Dravet Syndrome
Pallor ORPHA:33069
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Nonimmune hydrops fetalis OMIM:266200
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor OMIM:609053
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly ORPHA:99931
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cold Agglutinin Disease
Pallor ORPHA:56425
Retinitis Pigmentosa 75
Pallor OMIM:617023
Waldenström Macroglobulinemia
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Pallor, Edema, Dehydration ORPHA:20
Elliptocytosis 1
Pallor OMIM:611804
Sepsis In Premature Infants
Petechiae, Pallor, Edema, Purpura ORPHA:90051
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pallor ORPHA:90045
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Fumarase Deficiency
Pallor, Ascites, Perimembranous ventricular septal defect, Polyhydramnios OMIM:606812
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Pallor, Hypoplasia of the musculature ORPHA:231226
Senior-Loken Syndrome 8
Pallor OMIM:616307
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Letterer-Siwe Disease
Pallor OMIM:246400
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Facial hypotonia, Pallor, Dehydration ORPHA:2131
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Pallor, Hypoplasia of the musculature ORPHA:231214
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Hydrops fetalis, Dehydration OMIM:557000
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Angioedema, Dilated cardiomyopathy, Myocardial eosinophilic infiltration... ORPHA:3260
Von Hippel-Lindau Disease
Myocarditis, Macular edema, Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal lower limb... ORPHA:892
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Pallor, Pulmonary edema ORPHA:137675
Infection-Related Hemolytic Uremic Syndrome
Edema, Myocarditis, Pleural empyema, Pallor, Generalized edema ORPHA:544482
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Aregenerative Anemia
Pallor ORPHA:101096
Adenohypophysitis
Pallor ORPHA:95512
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Pallor, Polyhydramnios ORPHA:1199
Panhypophysitis
Pallor ORPHA:95513
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Pallor, Atrial s... ORPHA:124
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Degcags Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pallor, Pulmonic stenosis, A... OMIM:619488
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Prolactinoma
Pallor ORPHA:2965
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Small thenar eminence, Pallor, Atrial septal defec... OMIM:105650
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Anemic pallor, Abnormal heart morphology OMIM:227646
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect, Anemic pallor OMIM:227645
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Multiple Endocrine Neoplasia Type 2
Pallor, Proximal amyotrophy ORPHA:653
Autosomal Recessive Malignant Osteopetrosis
Pallor, Abnormal pulmonary valve morphology ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis ORPHA:391665

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 Prdm6

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 Prdm6.

No publications found that use IMPC mice or data for Prdm6.

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
Prdm6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prdm6tm96457(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prdm6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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