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Gene: Mrps12 MGI:1346333

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Gene Summary

Name:
mitochondrial ribosomal protein S12
Synonyms:
rps12,  mitoribosomal protein s12,  Rpms12

Order Alleles

IMPC Data Collections

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
embryonic lethality prior to organogenesis Mrps12em1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, complete penetrance Mrps12em1(IMPC)Bay HOM   Early adult 0.00
decreased exploration in new environment Mrps12em1(IMPC)Bay HET Early adult 4.08×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Human diseases caused by Mrps12 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mrps12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Cardiomyopathy, Dilated, 1M
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... OMIM:607482
Cardiomyopathy, Dilated, 2A
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract... OMIM:613286
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... OMIM:606685
Cardiomyopathy, Dilated, 1Hh
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Dilated cardiomyopathy OMIM:618097
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... OMIM:615248
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1K
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy OMIM:605582
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 2B
Congestive heart failure, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611615
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Cardiomyopathy, Dilated, 2G
Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial enlargement, Cerebral hemo... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyocyte hypertrophy, Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... OMIM:619371
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602086
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:616198
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Concentric hypertrophic cardiomyopathy, Left atrial enlargement, R... OMIM:619402
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... OMIM:613690
Glycogen Storage Disease Vi
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia, Dilated cardiomyopathy OMIM:605676
Glycogen Storage Disease 0, Muscle
Cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:611556
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Dilated cardiomyopathy, Left ventricular hypertrophy ORPHA:206546
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Biv... OMIM:619424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:608099
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Interstitial cardiac fibrosis, Left anterior fascicular block, Reduced left ventricular ejection ... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebs... OMIM:611878
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... OMIM:614676
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy OMIM:619492
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Reduced systolic function, Dilated cardiomyopathy OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... OMIM:608751
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Myopathy, Distal, 1
Dilated cardiomyopathy, Left atrial enlargement OMIM:160500
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy ORPHA:206559
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... OMIM:611705
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Sudden cardiac death, Reduced left ventr... OMIM:612124
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, Bi... OMIM:255160
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ... OMIM:618378
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation, Left ventricula... OMIM:613874
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:252011
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... OMIM:610198
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:1349
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas ORPHA:3032
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... ORPHA:75566
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... ORPHA:45453
Dk1-Cdg
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Congestive heart failure, D... ORPHA:91131
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy OMIM:161800
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Myopathy, Centronuclear, 5
Mitral regurgitation, Dilated cardiomyopathy OMIM:615959
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... OMIM:608758
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Pancreatitis, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy ORPHA:171442
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin OMIM:212112
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Dilated cardiomyopathy OMIM:618805
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula... OMIM:620152
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... OMIM:619167
Polymyositis
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Gastrointestinal hemorrhage, Congestive... ORPHA:732
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy ORPHA:272
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage ORPHA:280679
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... OMIM:613873
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Sudden Cardiac Failure, Infantile
Myocarditis, Bradycardia, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyop... OMIM:617222
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy OMIM:255310
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy OMIM:145350
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... OMIM:612098
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Atrial fibrillation, Angina pectoris, Hypertrophic ca... OMIM:115195
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Scleroderma, Familial Progressive
Telangiectasia, Abnormality of chromosome stability, Chromosome breakage OMIM:181750
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Bicuspid aortic valve, Aortic regurgitation, Dilated cardiomyopathy ORPHA:401923
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Ch... OMIM:619662
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Hypotension, Right atrial enlargement, Abnormal ST se... OMIM:612422
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc... ORPHA:64743
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Abnormal heart mor... ORPHA:398124
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:310200
Barth Syndrome
Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Dilated cardiomyopathy, Hypertroph... OMIM:302060
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615595
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
Cholesteryl Ester Storage Disease
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... OMIM:278000
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy OMIM:602541
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Tachycardia, Atrial septal defect, Ventricular septal defect, Arrhythmia... ORPHA:26793
Familial Cutaneous Collagenoma
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect ORPHA:53296
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... OMIM:619343
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:300845
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... OMIM:115197
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:261
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Andersen-Tawil Syndrome
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Abnormal T-wave, Tor... ORPHA:37553
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopat... ORPHA:99901
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy OMIM:607155
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Abnormal cardiomyocyte mor... ORPHA:367
Gm1-Gangliosidosis, Type I
Congestive heart failure, Abnormal heart valve morphology, Dilated cardiomyopathy, Hypertrophic c... OMIM:230500
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:98855
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... ORPHA:69663
Kallmann Syndrome-Heart Disease Syndrome
Mitral regurgitation, Aortic regurgitation, Pulmonary insufficiency, Double outlet right ventricl... ORPHA:2326
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Ventricular tachycardia, Dilated cardiomyopathy, Ventricular fibrillation, Histio... OMIM:300952
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardiac death, Sudden ... OMIM:614921
Mcleod Syndrome
Cardiomyopathy, Atrial fibrillation, Dilated cardiomyopathy OMIM:300842
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy OMIM:609015
Leigh Syndrome With Cardiomyopathy
Mitral regurgitation, Pulmonic stenosis, Congestive heart failure, Cardiac conduction abnormality... ORPHA:70474
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Atrial standstill, Cardiomyopathy, Absent P wave, Bradycardi... OMIM:615745
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Arrhythmia, Palpitation... ORPHA:263297
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Hy... ORPHA:255210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Atrial septal defect, Dilated cardiomyopathy, Myocardial fibrosis, Transpositi... OMIM:253800
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De... OMIM:500013
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Arterial Tortuosity Syndrome
Myocarditis, Cardiac arrest, Telangiectasia of the skin, Hypertension, Abnormal myocardium morpho... ORPHA:3342
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:71212
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy OMIM:608836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Cardiomyopathy, Hematochezia, Congestive heart failure, Dilated cardiomyopathy OMIM:615895
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Chronic hepatitis, Portal inflammati... ORPHA:101330
Alstrom Syndrome
Hypertension, Congestive heart failure, Dilated cardiomyopathy OMIM:203800
Collagenoma, Familial Cutaneous
Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... OMIM:115250
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy ORPHA:70595
Melas
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, Wolff-Parkinson-White sy... ORPHA:550
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmia, Palpitation... ORPHA:254892
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Vici Syndrome
Left ventricular hypertrophy, Atrial septal defect, Cardiomyopathy, Congestive heart failure, Dil... OMIM:242840
Dominant Beta-Thalassemia
Arrhythmia, High-output congestive heart failure, Dilated cardiomyopathy ORPHA:231226
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Dilated cardiomyopathy, Hypotension ORPHA:20
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Dilated cardiomyopathy OMIM:610505
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral valve prolapse, Mitral regurgitation, Dilated cardiomyopathy OMIM:607459
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Endocardial fibroelastosis, Mitral regurgitation OMIM:226100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Elevated hepatic transaminase, Giant cell hepatitis, Hepatic... OMIM:208085
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... OMIM:234700
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Increased myocardial glycogen content, ... OMIM:261740
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Subdural hemorrhage, Pulmonary embolism, Abnormal heart morpholo... ORPHA:79282
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Beta-Thalassemia Major
Arrhythmia, High-output congestive heart failure, Dilated cardiomyopathy ORPHA:231214
Sweet Syndrome
Small vessel vasculitis, Dilated cardiomyopathy ORPHA:3243
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Intracranial hemorrhage, Pulmonary embolism, Myocardial eosinophilic infiltra... ORPHA:3260
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:164310
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Atrial septal defect, Atrioventricular canal defect, Hypertensio... OMIM:619573
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Vasculitis, Hypertension, Portal hypertension, Dilated cardiomyopathy OMIM:615688
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex IV, Hepatomegaly, Elevated hepatic transaminase, Abno... ORPHA:17
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy ORPHA:89842
Fumarase Deficiency
Decreased fumarate hydratase activity, Hepatic failure, Mitochondrial swelling, Intrahepatic chol... OMIM:606812
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperecho... ORPHA:456312
Microphthalmia With Linear Skin Defects Syndrome
Mitral regurgitation, Arrhythmia, Tricuspid valve prolapse, Tricuspid regurgitation, Dilated card... ORPHA:2556
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Decre... OMIM:601992
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Steinert Myotonic Dystrophy
Prolonged QRS complex, Left ventricular systolic dysfunction, Supraventricular tachycardia, Prolo... ORPHA:273
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
1P36 Deletion Syndrome
Tetralogy of Fallot, Abnormal heart valve morphology, Telangiectasia, Dilated cardiomyopathy, Abn... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defec... OMIM:607872
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy ORPHA:79404
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy ORPHA:79408
Choreoacanthocytosis
Dilated cardiomyopathy ORPHA:2388
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Portal hypertension, Dil... OMIM:243800
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Peritonitis, Jaundice, Intrahepatic cholestasis, Portal inflammation, Hepa... OMIM:619991
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Portal hypertension, Decreased liver function... ORPHA:797
Alström Syndrome
Pulmonary arterial hypertension, Hypertension, Abnormal coronary artery physiology, Portal hypert... ORPHA:64
Pmm2-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Abnormal liver parenchyma morphology ORPHA:79318

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 Mrps12

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 Mrps12.

No publications found that use IMPC mice or data for Mrps12.

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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
Mrps12tm299584(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mrps12em1(IMPC)Bay Whole-gene deletion Mice

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