Gene Summary

Name:
lactate dehydrogenase A-like 6B
Synonyms:
LDHAL,  4933402O15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Ldhal6bem1(IMPC)J HOM   Early adult 1.07×10-05
decreased heart rate Ldhal6bem1(IMPC)J HOM   Early adult 9.41×10-05

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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 Skull Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Ldhal6b 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 Ldhal6b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Hearing impairment, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... ORPHA:101016
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Congenital sensorineural hearing impairment, Sudden cardiac death, Prolonged ... OMIM:220400
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Facial p... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... OMIM:616648
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, EEG abnormality, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Hypsarrhythmia, Prolonged PR interval... ORPHA:542306
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hearing impairment, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Wild Type Attr Amyloidosis
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:330001
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval, Ventricular fibrillation, Profou... ORPHA:90647
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Bradycardia OMIM:617248
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Tetanus
Abnormal autonomic nervous system physiology, Tachycardia, Autonomic bladder dysfunction, Hyperte... ORPHA:3299
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Bradycardia, Atrioventricular block, Macrotia OMIM:614407
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... OMIM:613873
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Illum Syndrome
Bradycardia OMIM:208155
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Acitretin/Etretinate Embryopathy
Microtia, Cupped ear, Third degree atrioventricular block, Bilateral sensorineural hearing impair... ORPHA:40366
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Glutamine Deficiency, Congenital
Low-set ears, Bradycardia OMIM:610015
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Tachycardia OMIM:221400
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... ORPHA:439232
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Bradycardia ORPHA:95716
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Decreased nerve conduction velocity, Optic disc pallor, Hypsarrhythmia, Bradycardia ORPHA:565624
D-Glyceric Aciduria
Sensorineural hearing impairment, Optic nerve hypoplasia, Hypsarrhythmia, Bradycardia OMIM:220120
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Glossopharyngeal Neuralgia
Cranial nerve compression, Syncope, Abnormal glossopharyngeal nerve morphology, Jaw claudication,... ORPHA:221098
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope OMIM:616812
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypsarrhythmia, Bradycardia OMIM:610768
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Paragangliomas 3
Hypertension associated with pheochromocytoma, Pulsatile tinnitus, Tachycardia, Palpitations OMIM:605373
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Abnormal autonomic nervous system physiology, Cupped ear, Tachycardia, Hypertension, Posteriorly ... OMIM:613870
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, Low-set ears, Bradycardia OMIM:614653
Neuroleptic Malignant Syndrome
Abnormal autonomic nervous system physiology, Tachycardia, Arrhythmia, Pulmonary embolism, Hypote... ORPHA:94093
Paragangliomas 1
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... OMIM:168000
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Proximal Spinal Muscular Atrophy
Facial diplegia, Bradycardia ORPHA:70
Sheehan Syndrome
Sensorineural hearing impairment, Orthostatic hypotension, Palpitations, Bradycardia ORPHA:91355
Infantile Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, Hearing impairment, Abnormal heart rate varia... ORPHA:206436
Encephalitis Lethargica
Bradycardia ORPHA:83600
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... ORPHA:99827
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Tachycardia, Hypotension ORPHA:79155
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Bohring-Opitz Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Bradycardia ORPHA:97297
Marburg Hemorrhagic Fever
Hypovolemia, Tachycardia, Hypotension, Shock, Internal hemorrhage, Subconjunctival hemorrhage, Pe... ORPHA:99826
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... ORPHA:137675
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Abnormal pinna morphology, Pulmonary insufficiency, Bradycardia OMIM:614437
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Shock, Reduced left ventricular ejection fraction, Inte... ORPHA:99829
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Sensorineural hearing impairment, Optic nerve hypoplasia, Bradycardia ORPHA:226307
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... ORPHA:909
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Paragangliomas 4
Hypertension associated with pheochromocytoma, Pulsatile tinnitus, Tachycardia, Palpitations OMIM:115310
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Mend Syndrome
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials ORPHA:401973
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482

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 Ldhal6b

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 Ldhal6b.

No publications found that use IMPC mice or data for Ldhal6b.

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MGI Allele Allele Type Produced
Ldhal6bem1(IMPC)J Intra-exon deletion Mice

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