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
abnormal embryo size Prdm12tm2b(EUCOMM)Hmgu HET E15.5 0.00
decreased exploration in new environment Prdm12tm2b(EUCOMM)Hmgu HET   Early adult 1.54×10-11
decreased locomotor activity Prdm12tm2b(EUCOMM)Hmgu HET   Early adult 1.18×10-05
increased circulating cholesterol level Prdm12tm2b(EUCOMM)Hmgu HET Early adult 8.82×10-05
preweaning lethality, complete penetrance Prdm12tm2b(EUCOMM)Hmgu HOM   Early adult 0.00

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 1.79% (1 of 56)
brain 1.31% (6 of 457)
central nervous system ganglion 1.67% (1 of 60)
ear 0.22% (1 of 445)
embryo 0.44% (2 of 457)
eye 0.22% (1 of 461)
footplate 0.22% (1 of 462)
forebrain 0.22% (1 of 452)
forelimb 0.22% (1 of 459)
gut 1.82% (1 of 55)
handplate 0.21% (1 of 468)
head 1.09% (5 of 460)
heart 0.22% (1 of 462)
hindbrain 0.87% (4 of 459)
hindlimb 0.22% (1 of 452)
liver 0.22% (1 of 449)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 459)
maxillary process 0.22% (1 of 452)
midbrain 0.22% (1 of 464)
nose 1.45% (1 of 69)
oral cavity 0.22% (1 of 465)
placenta 13.16% (5 of 38)
skeleton 1.35% (1 of 74)
skin 0.22% (1 of 454)
spinal cord 1.64% (1 of 61)
tail 0.22% (1 of 460)
tail somite group 0.22% (1 of 455)
trachea 1.85% (1 of 54)
urinary system 1.96% (1 of 51)

Associated Images

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

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Embryo LacZ

LacZ images wholemount

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Immunophenotyping

Panel A FCS file(s)

6 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
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... OMIM:610947
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Myocardial infa... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Hepatic Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... OMIM:208920
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Dysdia... OMIM:277460
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Atrial arrhythmia, Sudden cardiac death, Palpitations, Elevated circulating c... OMIM:310300
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Cognitive impairment, Progressive neurologic deterior... ORPHA:90065
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Nathalie Syndrome
Abnormal EKG OMIM:255990
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Abnormal EKG, Progressive gait ataxia, Cognitive impairment ORPHA:1177
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Memory impairment, Suicidal ideation, Hyperuricemia, Hypercholesterolemia, ... ORPHA:77296
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Recessive Mitochondrial Ataxia Syndrome
Ataxia, Dysmetria, Cognitive impairment, Increased serum pyruvate, ST segment elevation, Gait dis... ORPHA:94125
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Irritability, Hypoproteinemia, Decreased HDL cholesterol co... ORPHA:247585
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Increased ... ORPHA:85451
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased circulating brain natriuretic peptide concentration, Increased le... OMIM:601494
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:615812
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Cog4-Cdg
Ataxia, Irritability, Hypercholesterolemia ORPHA:263501
Muscular Dystrophy, Duchenne Type
Loss of ambulation, Tip-toe gait, Elevated circulating creatine kinase concentration, Arrhythmia,... OMIM:310200
Smith-Magenis Syndrome
Self-mutilation, Hypertriglyceridemia, Head-banging, Hypercholesterolemia OMIM:182290
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Myopathy, Myosin Storage, Autosomal Recessive
Loss of ambulation, Right axis deviation, Elevated circulating creatine kinase concentration, Dil... OMIM:255160
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Galactokinase Deficiency
Increased level of galactitol in plasma, Psychomotor deterioration, Hypergalactosemia, Hyperchole... ORPHA:79237
Atrial Standstill 2
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Pulmonary embolism, Hypertriglyceridemia, Hypoalbuminem... ORPHA:567548
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Hypercholesterolemia, Renovascular hypertension ORPHA:401923
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Congenital Analbuminemia
Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, H... ORPHA:86816
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia, Hypertrophic cardiomyopath... ORPHA:528
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Smith-Magenis Syndrome
Self-injurious behavior, Anxiety, Gait disturbance, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Decreased circulating renin level, Increased circulating cortisol l... ORPHA:231625
Laron Syndrome
Hypercholesterolemia ORPHA:633
Rett Syndrome
Abnormal T-wave, Gait apraxia, Truncal ataxia, Prolonged QTc interval, Motor deterioration, Gait ... OMIM:312750
Dysbetalipoproteinemia
Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration... ORPHA:412
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Portal hypertension, Hypercholesterole... OMIM:619662
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Anxiety, Increased circulating renin level, Myoca... ORPHA:90041
Friedreich Ataxia
Ataxia, Limb ataxia, Gait ataxia, Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:229300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia, Leth... ORPHA:90674
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Tip-toe gait, Elevated circulating creatine kinase concentration, Reduced left... ORPHA:268
Megalocornea-Mental Retardation Syndrome
Ataxia, Hypercholesterolemia OMIM:249310
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... ORPHA:3093
Megalocornea-Intellectual Disability Syndrome
Ataxia, Hypercholesterolemia ORPHA:2479
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Lysosomal Acid Lipase Deficiency
Steatorrhea, Cognitive impairment, Hypovolemia, Hyperkalemia, Hypotension, Hypertriglyceridemia, ... ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Hypertriglyceridemia, Hyper... ORPHA:363618
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Prolonged QRS complex, Inability to walk, Cognitive impairment, Men... ORPHA:273
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Hyperch... ORPHA:370
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Ataxia, Hyperammonemia, Elevated circulating cr... ORPHA:480864
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia ORPHA:69663
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Hyperch... ORPHA:264580
Al Amyloidosis
Abnormal P wave, Jaw claudication, Increased circulating NT-proBNP concentration, Arrhythmia, Abn... ORPHA:85443
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... ORPHA:391665
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Hyperlipidemia, Cognitive impairment, Hypertriglyceridemia, Hyperu... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hypertension, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Dysmetria, Ataxia ORPHA:93400
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic syncope, Elevated ci... ORPHA:230
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... ORPHA:860
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Elevated circulating C-reacti... ORPHA:70591
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Elevated c... ORPHA:466650
Scorpion Envenomation
Bundle branch block, Ataxia, Hypokalemia, Premature ventricular contraction, ST segment depressio... ORPHA:466677
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Alternating Hemiplegia Of Childhood
Ataxia, Abnormal T-wave, Arrhythmia, Progressive neurologic deterioration, Choreoathetosis, Cardi... ORPHA:2131
Immunodeficiency 47
Tricuspid regurgitation, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Lipodystrophy, Familial Partial, Type 7
Dysmetria, Orthostatic hypotension, Dysdiadochokinesis, Hypertriglyceridemia, Gait ataxia, Hyperc... OMIM:606721
African Trypanosomiasis
Akinesia, Apathy, Abnormality of circulating cortisol level, Anxiety, Arrhythmia, Myocarditis, Th... ORPHA:3385
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Self-injurious behavior, Hypoammonemia, Anxiety, Hyponatremia, Hyp... ORPHA:534
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Abnormal T-wave, ST segment depression, Hypocalcemia, Raynaud phenom... ORPHA:358
Friedreich Ataxia And Congenital Glaucoma
Ataxia, Concentric hypertrophic cardiomyopathy, Abnormal EKG, Hypertrophic cardiomyopathy, Conges... OMIM:229310
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Aggressive behavior, Hypercholesterolemia, Elevated maternal serum alpha-fetoprot... OMIM:309000
Friedreich Ataxia 2
Ataxia, Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy OMIM:601992
Absence Of The Pulmonary Artery
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... ORPHA:980
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Concentric hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Steppage ... OMIM:302900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Tricuspid regurgitation, Hyperbilirubinemia, Left-t... OMIM:619534
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Woodhouse-Sakati Syndrome
Mental deterioration, Choreoathetosis, Hyperlipidemia, Abnormal T-wave ORPHA:3464
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia, Abnormal T-wave OMIM:241080
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

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MGI Allele Allele Type Produced
Prdm12tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
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
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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