Not currently registered for phenotyping at IMPC

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

Gene Summary

PR domain containing 6
LOC225518,  PRISM

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 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
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
Matching phenotypes Source
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
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
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Pericarditis, Pallor ORPHA:163596
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Breath-Holding Spells
Pallor OMIM:607578
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Optic Atrophy 1
Pallor OMIM:165500
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Pallor OMIM:613561
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ... ORPHA:281127
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
American Trypanosomiasis
Pallor, Edema, Periorbital edema, Myocarditis, Cardiomyopathy ORPHA:3386
Hemoglobin D Disease
Pallor ORPHA:90039
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Pallor ORPHA:49827
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
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol... 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
Facial erythema, Cerebral edema, Pallor ORPHA:439218
Hypertrophic cardiomyopathy, Skin ulcer, Pallor ORPHA:848
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Retinitis Pigmentosa 51
Pallor OMIM:613464
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor ORPHA:3226
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Purpura, Pallor OMIM:254450
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor OMIM:600462
Skin ulcer, Pallor ORPHA:507
Irida Syndrome
Pallor ORPHA:209981
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pallor OMIM:609053
Dravet Syndrome
Pallor ORPHA:33069
Primary Myelofibrosis
Ecchymosis, Purpura, Petechiae, Pallor ORPHA:824
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Pallor OMIM:266200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor ORPHA:99931
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Cold Agglutinin Disease
Pallor ORPHA:56425
Retinitis Pigmentosa 75
Pallor OMIM:617023
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Beta-Ketothiolase Deficiency
Dehydration, Edema, Pallor ORPHA:134
Waldenström Macroglobulinemia
Pedal edema, Purpura, Pallor, Pleural effusion, Periorbital edema ORPHA:33226
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
Elliptocytosis 1
Pallor OMIM:611804
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Edema, Dilated cardiomyopathy, Pallor ORPHA:20
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sepsis In Premature Infants
Edema, Purpura, Petechiae, Pallor ORPHA:90051
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter, Pallor OMIM:617675
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pallor ORPHA:90045
Hereditary Spherocytosis
Restrictive cardiomyopathy, Skin ulcer, Pallor ORPHA:822
Tay-Sachs Disease
Pallor OMIM:272800
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Rare Circulatory System Disease
Elbow flexion contracture, Pallor ORPHA:98028
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Hypoplasia of the musculature, Pallor ORPHA:231226
Senior-Loken Syndrome 8
Pallor OMIM:616307
Letterer-Siwe Disease
Pallor OMIM:246400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Childhood Absence Epilepsy
Pallor ORPHA:64280
Alternating Hemiplegia Of Childhood
Dehydration, Cardiomyopathy, Facial hypotonia, Pallor ORPHA:2131
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Hypoplasia of the musculature, Pallor ORPHA:231214
Fumarase Deficiency
Pallor OMIM:606812
Pearson Marrow-Pancreas Syndrome
Dehydration, Hydrops fetalis, Erythema, Pallor OMIM:557000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pallor, Pleural effusion, Myocardial eosinophilic infiltration, Skeletal ... ORPHA:3260
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Pulmonary edema, Pallor ORPHA:137675
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Pallor, Edema, Myocarditis, Generalized edema ORPHA:544482
Von Hippel-Lindau Disease
Myocarditis, Macular edema, Pallor, Distal lower limb muscle weakness, Upper limb muscle weakness... ORPHA:892
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
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Pallor ORPHA:95512
Esophageal Atresia
Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect, Pallor ORPHA:1199
Pallor ORPHA:95513
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Pituitary Apoplexy
Pallor ORPHA:95613
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Degcags Syndrome
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Diaphr... OMIM:619488
Pallor ORPHA:2965
Blackfan-Diamond Anemia
Abnormality of the thenar eminence, Ventricular septal defect, Nonimmune hydrops fetalis, Atrial ... ORPHA:124
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Abnormal heart morphology, Anemic pallor OMIM:227646
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Ventricular septal defect, Atrial septal defect, Pallor OMIM:105650
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
Anemic pallor, Flexion contracture, Ventricular septal defect OMIM:227645
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Pallor ORPHA:653
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pallor ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Goodpasture Syndrome
Pallor OMIM:233450
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis ORPHA:391665


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.

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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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