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

IMPC Data Collections

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

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.

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, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... OMIM:619040
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Br... OMIM:619048
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Left ve... OMIM:615474
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Tangier Disease
Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertrophy, Splenomegal... OMIM:205400
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Right ventricular hypertrophy, Hypertension OMIM:268500
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:265400
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal... ORPHA:3208
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Left ventricular hypertrophy,... OMIM:615355
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Left ... OMIM:301500
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Internal hemorrhage ORPHA:335
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Ty... ORPHA:169186
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, Skeletal myopath... ORPHA:746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension ORPHA:320
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Aortic regurgitation, Pulmonary insufficiency, Abnormal hea... ORPHA:230851
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Right ventricul... OMIM:178600
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Mitral stenosis, Left ventric... OMIM:616564
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Left ventricular hypertrophy OMIM:619355
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Mucolipidosis Type Ii
Diastasis recti, Aortic regurgitation, Abnormal mitral valve morphology, Pulmonary insufficiency,... ORPHA:576
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Abnormal myocardium morphology, Ang... ORPHA:324
Vici Syndrome
Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Cardiom... OMIM:242840
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, EMG: myopathic abnor... ORPHA:254892
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, Congest... ORPHA:324604
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricular hypertrophy OMIM:619148
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Hypertension OMIM:209900
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Rhabdomyolysis, Epistaxis, Myocardial in... ORPHA:449285
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Abnormal pulmonary valve cusp morphology, T... ORPHA:100080
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Hepatomegaly ORPHA:79456
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Congenital diaphragmatic hernia, Cardiomegaly, Left ventricular hypertrophy... OMIM:245600
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Abnormal pulmonary valve cusp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Abnormal pulmonary valve cusp... ORPHA:100082
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Rhabdomyolysis, Tachycardia OMIM:145600
Perry Syndrome
Hypotension ORPHA:178509
Analbuminemia
Hypotension OMIM:616000
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Familial Parathyroid Adenoma
Mitral valve calcification, Aortic valve calcification, Left ventricular hypertrophy ORPHA:99877
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Hepatomegaly, Cerebral hemorrhage ORPHA:99828
Aa Amyloidosis
Hypotension, Enlarged kidney, Hepatomegaly, Abnormal heart morphology ORPHA:85445
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Abnormal pulmonary valve... ORPHA:97287
Nipah Virus Disease
Hypotension ORPHA:99825
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Cranioectodermal Dysplasia 2
Atrial septal defect, Hypertension, Hepatomegaly, Left ventricular hypertrophy, Splenomegaly, Pat... OMIM:613610
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension, Limb hypertonia OMIM:618480
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Flexion contracture, Tricuspid regurgitation, Hepatomegaly, Left vent... OMIM:619127
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,... OMIM:616028
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Coronary artery stenosis, Facial diplegia ORPHA:31150
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage OMIM:263400
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cardiac ventricular function, Tricuspid... ORPHA:466791
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Shock ORPHA:70578
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Scrub Typhus
Hypotension, Splenomegaly, Myocarditis ORPHA:83317
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Abnormal pu... ORPHA:100075
Necrotizing Enterocolitis
Hypotension, Bradycardia, Abnormal heart morphology, Shock ORPHA:391673
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Hepatomegaly, Cardiomyopathy ORPHA:159
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Hypoplasia of the abdominal wall musculature, Tr... OMIM:612289
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Hepatomegaly, Myocardial infarction, Sple... ORPHA:3452
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hypotension, Splenomegaly, Myocarditis ORPHA:549
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension OMIM:264350
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Aortic regurgitation, Abnormal heart morphology, Atrial fibrillation, Pu... ORPHA:284984
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Congenital Hypothyroidism
Macroglossia, Arrhythmia, Hypotension, Abnormal pericardium morphology, Hypertension ORPHA:442
Mastocytosis
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the skin, Hepatomegaly, S... ORPHA:98292
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Elbow flexion contracture, Patent foramen ovale ORPHA:96149
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Congenital Enterovirus Infection
Hypotension, Pericardial effusion, Cardiomyopathy, Myocarditis ORPHA:292
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial septal defect, Subarachnoid hemorrhage, Camptodactyly, Atrial fib... OMIM:613795
Poliomyelitis
Hypotension, Lower limb muscle weakness, Hypertension, Hypoplasia of the musculature, Abnormal sk... ORPHA:2912
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hematemesis, Hypotension,... ORPHA:100076
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Serotonin Syndrome
Hypotension, Rhabdomyolysis, Tachycardia, Hypertension ORPHA:43116
Meningococcal Meningitis
Hypotension, Shock ORPHA:33475
Aggressive Systemic Mastocytosis
Hypotension, Portal hypertension, Hepatosplenomegaly, Gastrointestinal hemorrhage ORPHA:98850
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myositis, Myocarditis, Capillary leak ORPHA:36234
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock ORPHA:36238
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Gitelman Syndrome
Palpitations, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Hepatomegaly ORPHA:134
Hennekam-Beemer Syndrome
Hypotension, Camptodactyly of finger, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Hepatomegaly, Tachycardia, Splenomegaly, Syncope ORPHA:98849
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Rhabdomyolysis, Hypertension, Pulmonary embolism, T... ORPHA:94093
Neuroendocrine Neoplasm Of Appendix
Palpitations, Hypotension, Hepatomegaly, Tricuspid stenosis, Heart murmur ORPHA:100079
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Cardiac arrest, Hepatomegaly ORPHA:20
Sepsis In Premature Infants
Hypotension, Hepatomegaly, Tachycardia, Splenomegaly, Bradycardia ORPHA:90051
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Torticollis, Limb hypertonia OMIM:608643
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Cholera
Hypotension, Tachycardia, Hypovolemic shock ORPHA:173
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Internal hemorrhage ORPHA:244242
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Rhabdomy... ORPHA:509
Acute Adrenal Insufficiency
Hypotension, Myocardial infarction, Orthostatic hypotension, Hypovolemia ORPHA:95409
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Pericardial effus... ORPHA:91347
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Alexander Disease
Sudden cardiac death, Hypotension, Facial palsy, Hypertension ORPHA:58
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Rhabdomyolysis, A... ORPHA:466650
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Prolactinoma
Hypotension ORPHA:2965
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypotension, Hepatosplenomegaly, Hypovolemia ORPHA:275761
Hepatocellular Carcinoma
Internal hemorrhage, Hypotension, Budd-Chiari syndrome, Hepatomegaly, Portal hypertension ORPHA:88673
46,Xy Disorder 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
Arrhythmia, Endocarditis, Hematemesis, Hypotension, Hepatomegaly, Tachycardia, Splenomegaly ORPHA:707
Addison Disease
Hypotension, Orthostatic hypotension ORPHA:85138
Acute Liver Failure
Intracranial hemorrhage, Hypotension, Gastrointestinal hemorrhage, Shock ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Hypovolemia, Shock 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.

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

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