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Gene: Ckmt2 MGI:1923972

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
creatine kinase, mitochondrial 2
Synonyms:
2300008A19Rik,  ScCKmit

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ckmt2 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 Ckmt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... OMIM:613876
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert... OMIM:540000
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep... OMIM:619048
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture OMIM:616733
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Macroglo... OMIM:613156
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Tangier Disease
Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Myo... OMIM:205400
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula... OMIM:301500
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage ORPHA:335
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,... ORPHA:308552
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... ORPHA:169186
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi... ORPHA:746
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral regurgitat... ORPHA:230851
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension ORPHA:320
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Left ventricular hy... OMIM:619487
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Ventri... OMIM:616564
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt OMIM:620510
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... ORPHA:254892
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... ORPHA:576
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... OMIM:212138
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation OMIM:617168
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:261740
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur... ORPHA:100080
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis, Muscle fiber necros... ORPHA:449285
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch... ORPHA:365
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis OMIM:619148
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100082
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Rhabdomyolysis OMIM:145600
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Perry Syndrome
Hypotension ORPHA:178509
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype... OMIM:242840
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:97287
Analbuminemia
Hypotension OMIM:616000
Chromosome 5Q12 Deletion Syndrome
Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia OMIM:615668
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Hypertension OMIM:209900
Aa Amyloidosis
Abnormal heart morphology, Hepatomegaly, Hypotension, Enlarged kidney ORPHA:85445
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Nipah Virus Disease
Hypotension ORPHA:99825
Dengue Fever
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hepatomegaly ORPHA:99828
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:100075
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Cranioectodermal Dysplasia 2
Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hepatomeg... OMIM:613610
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Limb hypertonia, Joint contracture ORPHA:35708
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy... OMIM:619127
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Scrub Typhus
Myocarditis, Hypotension, Splenomegaly ORPHA:83317
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia, Hepatomegaly ORPHA:159
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis ORPHA:31150
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Bicuspid aortic valve, Left ve... OMIM:220111
Legionnaires Disease
Hypotension, Splenomegaly, Arrhythmia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Abnormal heart morphology, Bicuspid aortic valve, Left ventricular hyper... OMIM:612289
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Splenomegaly, Myositis, Hepatomegaly, Myocarditis, Myoc... ORPHA:3452
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, L... ORPHA:284984
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Necrotizing Enterocolitis
Shock, Hypotension, Abnormal heart morphology, Bradycardia ORPHA:391673
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Portal hypertension ORPHA:98850
Congenital Enterovirus Infection
Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy ORPHA:292
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... ORPHA:90068
Loeys-Dietz Syndrome 3
Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Subar... OMIM:613795
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale ORPHA:96149
Poliomyelitis
Hypovolemic shock, Hypotension, Hypoplasia of the musculature, Skeletal muscle atrophy, Upper lim... ORPHA:2912
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension, Rhabdomyolysis ORPHA:43116
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ... ORPHA:99827
Acute Radiation Syndrome
Telangiectasia, Hypotension ORPHA:454831
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myositis, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypotension, Hypertension ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Cardiac arrest, Hypotension, Dilated cardiomyopathy ORPHA:20
Alg9-Cdg
Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morphology, Ventricular se... ORPHA:79328
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Hepatomegaly, Heart murmur, Tricuspid stenosis ORPHA:100079
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta... ORPHA:94093
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger ORPHA:2135
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Sepsis In Premature Infants
Hypotension, Splenomegaly, Bradycardia, Hepatomegaly, Tachycardia ORPHA:90051
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Splenomegaly, Syncope, Hepatomegaly, Tachycardia ORPHA:98849
Gitelman Syndrome
Hypotension, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Limb hypertonia, Torticollis OMIM:608643
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly, Tachycardia, Cardiac arrest OMIM:277400
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Hellp Syndrome
Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Alexander Disease
Hypertension, Hypotension, Facial palsy, Sudden cardiac death ORPHA:58
Leptospirosis
Hypotension, Pulmonary hemorrhage, Rhabdomyolysis, Hepatomegaly, Arrhythmia, First degree atriove... ORPHA:509
Acute Adrenal Insufficiency
Myocardial infarction, Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:95409
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Rhabdomyolysis, ST segm... ORPHA:466650
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Pulmonary ... OMIM:614437
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypotension, Pulmonary arterial hypertension, Hypovolemia ORPHA:275761
Prolactinoma
Hypotension ORPHA:2965
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:289548
Plague
Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Hepatomegaly, Tachycardia, Endocarditis ORPHA:707
Viss Syndrome
Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep... OMIM:619472
Addison Disease
Hypotension, Orthostatic hypotension ORPHA:85138
Acute Liver Failure
Shock, Hypotension, Gastrointestinal hemorrhage, Intracranial hemorrhage ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypotension, Hypovolemia ORPHA:90794
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494

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 Ckmt2

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 Ckmt2.

No publications found that use IMPC mice or data for Ckmt2.

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
Ckmt2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ckmt2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ckmt2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ckmt2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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