banner
Genes Phenotypes Help, News, Blog

Gene: Eif3k MGI:1921080

Log in to follow

Gene Summary

Name:
eukaryotic translation initiation factor 3, subunit K
Synonyms:
Eif3s12,  eIF3K,  1200009C21Rik

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
prolonged RR interval Eif3kem1(IMPC)Hmgu HET Early adult 4.95×10-05
abnormal tooth morphology Eif3kem1(IMPC)Hmgu HET Early adult 8.91×10-10
preweaning lethality, complete penetrance Eif3kem1(IMPC)Hmgu HOM   Early adult 0.000179
increased circulating total protein level Eif3kem1(IMPC)Hmgu HET Early adult 5.48×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Eif3k 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 Eif3k by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Hypoproteinemia OMIM:207731
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Paroxysmal Extreme Pain Disorder
Tachycardia, Mandibular pain, Bradycardia OMIM:167400
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo... ORPHA:90041
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Illum Syndrome
Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia OMIM:208155
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Hypo... ORPHA:99828
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters OMIM:226650
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Oligodontia, Microdontia, Hypoproteinemia ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Micrognathia, Alveolar ridge overgrowth, Cleft palate, High palate, Hyp... OMIM:235255
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage ORPHA:2494
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase OMIM:620265
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Micrognathia OMIM:608093
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... ORPHA:37553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular tachycardia, Atrioventricular block,... OMIM:601005
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... OMIM:212138
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Decreased plasma free carnitine, Bradycardia, Congestive heart failure OMIM:619048
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Micrognathia, Alveolar ridge overgrowth, High palate, Hypocalcemia, Hyp... ORPHA:1655
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... OMIM:615895
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Trismus, Hypertension, Bradycardia ORPHA:3299
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Carious teeth, Pulmonic stenosis, Hypoplasia of teeth OMIM:613312
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Peri... ORPHA:167
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Atrioventricular block, Bradycardia, Long philtrum OMIM:614407
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Hyperammonemia OMIM:614702
Glutamine Deficiency, Congenital
Hypoglutaminemia, Thin vermilion border, Bradycardia, Hyperammonemia OMIM:610015
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Micrognathia, High palate, Bradycardia, Third degree atriovent... ORPHA:40366
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Familial Thyroid Dyshormonogenesis
Macroglossia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Omenn Syndrome
Hypoproteinemia OMIM:603554
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Bradycardia, Tongue pain, Mandibular pain, Abnormal palate morphology ORPHA:221098
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Micrognathia OMIM:614498
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Dental crowding, Micrognathia, High palate, Bradycardia, Open mouth, Mil... OMIM:620351
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Increased circu... OMIM:619991
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Elevated circulating crea... OMIM:618775
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... OMIM:613327
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, High palate, Bradycardia OMIM:619272
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Tongue fasciculations OMIM:608800
Necrotizing Enterocolitis
Hyponatremia, Shock, Bradycardia, Hypotension ORPHA:391673
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
D-Glyceric Aciduria
Bradycardia, Nonketotic hyperglycinemia OMIM:220120
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonat... ORPHA:90674
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, High palate, Bradycardia, Open mouth OMIM:614653
Combined Oxidative Phosphorylation Defect Type 39
Open mouth, Bradycardia ORPHA:565624
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Sepsis In Premature Infants
Hypotension, Tachycardia, Bradycardia, Elevated circulating C-reactive protein concentration ORPHA:90051
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Lujo Hemorrhagic Fever
Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Subconjunctival hemorr... ORPHA:319213
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylas... ORPHA:99826
Proximal Spinal Muscular Atrophy
Bradycardia, Tongue fasciculations ORPHA:70
Sheehan Syndrome
Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Bohring-Opitz Syndrome
Micrognathia, Cleft lip, Cleft palate, Bradycardia, Retrognathia, Prominent palatine ridges ORPHA:97297
Yellow Fever
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... ORPHA:99829
Encephalitis Lethargica
Bradycardia ORPHA:83600
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Micrognathia, High palate, Bradycardia, Pulmonary insufficiency OMIM:614437
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Dilated cardiomyopathy, Abnormal blood i... ORPHA:79404
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Abnormal circulating thyroglobulin level, Bradycardia ORPHA:226307
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248

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 Eif3k

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 Eif3k.

No publications found that use IMPC mice or data for Eif3k.

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
Eif3kem1(IMPC)Hmgu Exon Deletion Mice
Eif3ktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Eif3ktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter