Gene: Prdm12 MGI:2685844

Log in to follow

Gene Summary

Name:
PR domain containing 12
Synonyms:
LOC381359

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.

Phenotype System Allele Zyg Sex Life Stage P Value
shortened QRS complex duration Prdm12tm2b(EUCOMM)Hmgu HET Early adult 2.56×10-05
increased circulating cholesterol level Prdm12tm2b(EUCOMM)Hmgu HET Early adult 7.26×10-06
abnormal embryo size Prdm12tm2b(EUCOMM)Hmgu HET E15.5 0.00
hypoactivity Prdm12tm2b(EUCOMM)Hmgu HET Early adult 9.62×10-07
preweaning lethality, complete penetrance Prdm12tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased exploration in new environment Prdm12tm2b(EUCOMM)Hmgu HET Early adult 3.67×10-14

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A Ambiguous
N/A homozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
N/A homozygote 40% (2 of 5)
N/A Ambiguous
N/A homozygote 100% (2 of 2)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 40% (2 of 5)
N/A heterozygote Ambiguous
N/A homozygote 40% (2 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
N/A homozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 40% (2 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 40% (2 of 5)
N/A Ambiguous
N/A homozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
N/A homozygote 100% (2 of 2)
N/A Ambiguous
N/A homozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
N/A homozygote 100% (2 of 2)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A heterozygote Ambiguous
N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

28 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Gross Pathology and Tissue Collection

Images

8 Images

Human diseases caused by Prdm12 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 Prdm12 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
OMIM:616488

The table below shows human diseases predicted to be associated to Prdm12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Myocardial infarction, Congestive heart... OMIM:615703
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Hepatic Lipase Deficiency
Angina pectoris, Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Dementia, Limb ataxia, Ataxia, Hypoa... OMIM:208920
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Palpitations ORPHA:488650
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... OMIM:616000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Nathalie Syndrome
Abnormal EKG OMIM:255990
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Progressive neurologic deterioration, Ischemic stroke, ST segment depressio... ORPHA:90065
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Abnormal EKG ORPHA:1177
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Orthostatic hypotension, Hypertriglyceridemia, Dysmetria OMIM:606721
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Increased serum pyruvate, Gait disturbance, Ataxia, ST segment elevation, Dysmetr... ORPHA:94125
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Aggressive behavior, Acute hyperammonemia, Hyper... ORPHA:247585
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Head-banging, Hypertriglyceridemia, Hyperactivity OMIM:182290
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure, Waddling gait, Elevat... OMIM:310200
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia, ... ORPHA:94090
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Elevated alpha-fetoprotein, Ataxia, Hypoalbuminemia, Elevated cir... ORPHA:64753
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:615812
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Dementia, Abnormal T-wave, Motor deterioration, Gait aprax... OMIM:312750
Cog4-Cdg
Hypercholesterolemia, Irritability, Ataxia ORPHA:263501
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiogen... ORPHA:75565
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... OMIM:615745
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Psychomotor deterioration, Hyperga... ORPHA:79237
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Pulmonary e... ORPHA:567548
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:231625
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia, Dilated cardiomyopathy, Aortic regurgitation ORPHA:401923
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Low pulse pressure, Increased alpha-globu... ORPHA:86816
Friedreich Ataxia
Abnormal echocardiogram, Gait ataxia, Limb ataxia, Ataxia, Congestive heart failure, Abnormal EKG... OMIM:229300
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, La... ORPHA:36913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Gastrointestinal hemorrhage, Hy... ORPHA:247598
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Portal hypertension, Steatorrhea, Hypertriglyceridemia, Decreased HDL chole... OMIM:278000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level, Congestive heart failure, ... ORPHA:528
Smith-Magenis Syndrome
Hypercholesterolemia, Gait disturbance, Self-injurious behavior, Hypertriglyceridemia, Anxiety, A... ORPHA:819
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Increased circulating troponin I concentratio... OMIM:619040
Laron Syndrome
Hypercholesterolemia ORPHA:633
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hypertriglyceridemia, Decreased HDL cholester... ORPHA:412
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin l... ORPHA:90674
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Reduced ejection fraction, Elevated circulating creatine kinase concentration,... ORPHA:268
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Arrhythmia, Ataxia, Elevated circulating acylcarnitine concentration, Prolonged QT inte... ORPHA:480864
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Intracranial hemorrhage, Hypertension, Hypertriglyceridemia, Aortic valve s... ORPHA:363618
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Dilated cardiomyopathy, Lethargy, Ventricular tachycar... ORPHA:26793
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hypovolemia, Hypotension, Psychomotor deterioration, Hyponatre... ORPHA:275761
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Cardiac conduction abnormality, Prolonged QRS complex, A... ORPHA:273
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Lethargy, ... ORPHA:470
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, C... ORPHA:370
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Irritability, Prolonged QT interval, Anxie... ORPHA:94089
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, C... ORPHA:264580
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... ORPHA:230
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lethargy, Abnormal circulating acetylcarnitine concentration, Mildly ... ORPHA:71212
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Angina pectoris, Abnormal left ventricular function, Hypertension, Sudden c... ORPHA:391665
Congenital Sialidosis Type 2
Dysmetria, Ataxia, Telangiectasia, Abnormal EKG ORPHA:93400
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Hypertension, Decreased HDL cholesterol concentration OMIM:151660
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Increased HDL cholesterol concentration, Cardiac shunt, ... ORPHA:70591
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Epistaxis, Hypertension, Hypertriglyceridemia, ... ORPHA:79259
Scorpion Envenomation
Cardiogenic shock, Increased circulating creatine kinase MB isoform, Bundle branch block, Cardiac... ORPHA:466677
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prominent U wave, Bidirectional ventricular ectopy, Hypokalemia, Prolonged QT inter... OMIM:170390
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depre... ORPHA:466650
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Dystonia, Arrhythmia, Cardiac conduction abnormality, Aggre... ORPHA:2131
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:229310
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Ataxia, Congestive heart failure, T... ORPHA:31826
Friedreich Ataxia 2
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:601992
African Trypanosomiasis
Arrhythmia, Pericarditis, Akinesia, Aggressive behavior, Difficulty walking, Apathy, Gait disturb... ORPHA:3385
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Self-injurious behavior, Hyponatremia, Hyp... ORPHA:534
Gitelman Syndrome
Hypocalcemia, Palpitations, Hypermagnesemia, Primary hyperaldosteronism, Low-to-normal blood pres... ORPHA:358
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... ORPHA:90068
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:302900
Woodhouse-Sakati Syndrome
Abnormal T-wave, Mental deterioration, Hyperlipidemia, Dystonia ORPHA:3464
Thyrotoxic Periodic Paralysis
Palpitations, Mildly elevated creatine kinase, Transient hypophosphatemia, Ventricular fibrillati... ORPHA:79102
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia, Dystonia OMIM:241080
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Aggressive behavior, Bicarbonatu... OMIM:309000
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
OMIM:616488

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 Prdm12

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 Prdm12.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis. Cell reports (March 2019) Prdm12tm2c(EUCOMM)Hmgu Prdm12tm2a(EUCOMM)Hmgu Prdm12tm2b(EUCOMM)Hmgu 30917305

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Prdm12tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Prdm12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prdm12tm39295(L1L2_gt1) Targeting vectors
Prdm12tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter