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Gene: Prdm12 MGI:2685844

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Gene Summary

Name:
PR domain containing 12
Synonyms:
LOC381359

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Prdm12tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
shortened QRS complex duration Prdm12tm2b(EUCOMM)Hmgu HET Early adult 2.56×10-05
abnormal embryo size Prdm12tm2b(EUCOMM)Hmgu HET E15.5 0.00
decreased exploration in new environment Prdm12tm2b(EUCOMM)Hmgu HET   Early adult 2.23×10-12
increased circulating cholesterol level Prdm12tm2b(EUCOMM)Hmgu HET Early adult 7.07×10-06
decreased locomotor activity Prdm12tm2b(EUCOMM)Hmgu HET Early adult 1.41×10-05

Download data as:  TSV  XLS

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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
Axial skeleton N/A homozygote 0.0% (0 of 2)
Brain N/A heterozygote Ambiguous
Brain N/A homozygote 40% (2 of 5)
N/A Ambiguous
Central nervous system ganglion N/A homozygote 100% (2 of 2)
Ear N/A heterozygote Ambiguous
Ear N/A homozygote 0.0% (0 of 5)
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote 40% (2 of 5)
Eye N/A heterozygote Ambiguous
Eye N/A homozygote 40% (2 of 5)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote 0.0% (0 of 5)
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote 0.0% (0 of 5)
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Gut N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote 0.0% (0 of 5)
Head N/A heterozygote Ambiguous
Head N/A homozygote 0.0% (0 of 5)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 5)
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote 40% (2 of 5)
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote 0.0% (0 of 5)
Liver N/A heterozygote Ambiguous
Liver N/A homozygote 0.0% (0 of 5)
Lung N/A heterozygote Ambiguous
Lung N/A homozygote 0.0% (0 of 5)
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote 0.0% (0 of 5)
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote 0.0% (0 of 5)
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote 40% (2 of 5)
N/A Ambiguous
Nose N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Chorioallantoic placenta N/A homozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote Ambiguous
Skin N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Spinal cord N/A homozygote 100% (2 of 2)
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote 0.0% (0 of 5)
Tail N/A heterozygote Ambiguous
Tail N/A homozygote 0.0% (0 of 5)
N/A Ambiguous
Trachea N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system 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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

28 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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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
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypothyroidism, Congenital, Nongoitrous, 8
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Decreased HDL cholesterol concentration, Increased LDL cholesterol conc... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
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
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:300376
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Elevated circulating creatine ki... OMIM:208920
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Ataxia With Vitamin E Deficiency
Short term memory impairment, Ataxia, Xanthelasma, Increased LDL cholesterol concentration, Dysme... OMIM:277460
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Elevated circulating creatine kinase concent... OMIM:310300
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST se... ORPHA:90065
Nathalie Syndrome
Abnormal EKG OMIM:255990
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Progressive gait ataxia, Cognitive impairment, Abnormal EKG ORPHA:1177
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Ataxia, Elevated circulating alpha-f... OMIM:616267
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Morgagni-Stewart-Morel Syndrome
Memory impairment, Depression, Hyperuricemia, Hypercholesterolemia, Cognitive impairment, Hyperte... ORPHA:77296
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hy... ORPHA:247585
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Dysmetria, Gait disturbance, Cognitive impairment, Ataxia, ST segment elevation, ... ORPHA:94125
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Cog4-Cdg
Ataxia, Hypercholesterolemia, Irritability ORPHA:263501
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypertension... OMIM:615812
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Ele... OMIM:310200
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Galactokinase Deficiency
Psychomotor deterioration, Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol... ORPHA:79237
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Renovascular hypertension, Hypercholesterolemia, Dilated cardiomyopathy ORPHA:401923
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent... ORPHA:90674
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... ORPHA:86816
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:528
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Hype... ORPHA:412
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Smith-Magenis Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Hypercholesterolemia, Hypertriglyceri... ORPHA:819
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Laron Syndrome
Hypercholesterolemia ORPHA:633
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Portal hypertension, Hypertriglyceridemia, Hypercholeste... OMIM:278000
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Rett Syndrome
Abnormal T-wave, Gait ataxia, Gait apraxia, Motor deterioration, Truncal ataxia, Prolonged QTc in... OMIM:312750
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, At... OMIM:229300
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Gaisböck Syndrome
Elevated diastolic blood pressure, Hyperuricemia, Hypovolemia, Angina pectoris, Hypercholesterole... ORPHA:90041
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Abnormal EKG, Inability to walk, Reduced left ventricular ejection fraction, Elevat... ORPHA:268
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Lysosomal Acid Lipase Deficiency
Hypotension, Xanthelasma, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Co... ORPHA:275761
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Chronic Thromboembolic Pulmonary Hypertension
Depression, Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolis... ORPHA:70591
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hypercholesterolemia, Hyperammonemia OMIM:620454
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Abnormal EKG, Hyperammonemia, Elevated circulat... ORPHA:480864
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypercholesterolemia, Hype... ORPHA:363618
Neuhauser Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Steinert Myotonic Dystrophy
Mental deterioration, Depression, Dilated cardiomyopathy, Falls, Inability to walk, Left ventricu... ORPHA:273
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Conf... ORPHA:466650
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Cardiomyopathy, Hypertr... ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia ORPHA:69663
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Hype... ORPHA:186
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Xanthelasma, Hyperlipidemia, Pulmonary venous hypertension, Hyperuricemia, Hypercholes... ORPHA:79259
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Syncope, Increa... ORPHA:230
Prader-Willi Syndrome
Attention deficit hyperactivity disorder, Hypercholesterolemia, Hypertriglyceridemia, Decreased H... OMIM:176270
Lipodystrophy, Familial Partial, Type 2
Hypertension, Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Congenital Sialidosis Type 2
Telangiectasia, Dysmetria, Ataxia, Abnormal EKG ORPHA:93400
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... ORPHA:391665
Glycogen Storage Disease Ii
Sinus tachycardia, Difficulty walking, Shortened PR interval, Elevated circulating creatine kinas... OMIM:232300
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Immunodeficiency 47
Tricuspid regurgitation, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged QRS complex, Ischemic... ORPHA:90068
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Dysmetria, Pulmonary arterial hypertension, Hypercholesterolemia, Orthostatic hypote... OMIM:606721
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Emotional lability, Cardiac conduction abnormality, Arrhythmia, ... ORPHA:2131
Oculocerebrorenal Syndrome Of Lowe
Depression, Hyperaldosteronism, Hyponatremia, Hypokalemia, Attention deficit hyperactivity disord... ORPHA:534
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Gitelman Syndrome
Hypermagnesemia, Prominent U wave, Hypomagnesemia, Abnormal T-wave, Palpitations, Hypocalcemia, H... ORPHA:358
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Aortic regurgitation, Bidirectional shunt, Increased circulating ferritin concen... OMIM:619534
Woodhouse-Sakati Syndrome
Mental deterioration, Hyperlipidemia, Choreoathetosis, Abnormal T-wave ORPHA:3464
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Woodhouse-Sakati Syndrome
Hyperlipidemia, Choreoathetosis, Abnormal T-wave OMIM:241080
Friedreich Ataxia 2
Ataxia, Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Noonan Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Abnormal EKG ORPHA:648
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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The transcriptional regulator PRDM12 is critical for Pomc expression in the mouse hypothalamus and controlling food intake, adiposity, and body weight. Molecular metabolism (January 2020) Prdm12tm2b(EUCOMM)Hmgu Prdm12tm2c(EUCOMM)Hmgu PMC7011018
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.

MGI Allele Allele Type Produced
Prdm12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prdm12tm39295(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prdm12tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prdm12tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Prdm12tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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