Gene Summary

Name:
ligand dependent nuclear receptor corepressor-like
Synonyms:
Mlr1,  A830039H10Rik

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
hyperactivity Lcorlem1(IMPC)J HOM Early adult 5.99×10-05
preweaning lethality, incomplete penetrance Lcorlem1(IMPC)J HOM   Early adult 0.00
abnormal auditory brainstem response Lcorlem1(IMPC)J HOM   Early adult 1.58×10-09
prolonged RR interval Lcorlem1(IMPC)J HOM Early adult 2.58×10-07
increased exploration in new environment Lcorlem1(IMPC)J HOM Early adult 8.83×10-05
decreased heart rate Lcorlem1(IMPC)J HOM Early adult 1.65×10-05

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.

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Lcorl 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 Lcorl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Hearing impairment OMIM:614896
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Abnormal autonomic ... ORPHA:101016
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Immunodeficiency 8
Hyperactivity OMIM:615401
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability OMIM:616657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, EEG abnormality, Hypertrophic cardiomyopathy OMIM:618815
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Congenital sensorineural hearing... OMIM:220400
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Mitral regurgitation, Prol... OMIM:616648
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Sensorineural hearing impairment, Sudden cardiac death, Prolonged QT interval... OMIM:612347
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, H... ORPHA:542306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Sensorineural hearing impairment OMIM:617248
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Autonomic bladder dysfunction, Abnormal EKG, Hypertrophic c... ORPHA:330001
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Irritabi... OMIM:212138
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Aggressive behavior OMIM:239500
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Arrhythmia, Dementia, Cardiomyopathy, Bradycardia OMIM:609286
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Mental deterioration, Aggressive... ORPHA:2382
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Hyperactivity, EEG with generalized epileptiform discharges, Interict... ORPHA:98818
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hypotension, Abnormal autonomic nervous system physiolog... ORPHA:369873
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Prominent antihelix, Macrotia, Atrioventricular block OMIM:614407
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Bradyc... ORPHA:3299
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Glutamine Deficiency, Congenital
Bradycardia, Neonatal death, Low-set ears OMIM:610015
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggr... ORPHA:3077
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Anxiety, Cranial nerve compression, Syncope, Abnormal glossopharyn... ORPHA:221098
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Hydroxykynureninuria
Tachycardia, Hypotension, Hearing impairment OMIM:236800
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Anxiety, Hyperactivity, Aggressive behavior, Posteriorly rotated ears, Macrotia OMIM:609425
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Prominent ear helix ORPHA:100973
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Bilateral sensorineural hearing impairm... ORPHA:90647
Illum Syndrome
Bradycardia OMIM:208155
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Cognitive impairment, In... ORPHA:1929
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Aggressive behavior OMIM:300983
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Microtia, Bilateral sensorineural hearing impair... ORPHA:40366
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Aggressive behavior OMIM:619470
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Attention deficit hyp... OMIM:261600
Familial Thyroid Dyshormonogenesis
Bradycardia, Sensorineural hearing impairment ORPHA:95716
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Hyperactivity, Aggressive behavior, Posteriorly rotated ears OMIM:617773
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Mental deterioration, Decreased nerve conduction ... ORPHA:206443
Variegate Porphyria
Tachycardia OMIM:176200
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Decreased nerve conduction velocity, Optic disc pallor, Bradycardia, Hypsarrhythmia ORPHA:565624
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Abnormality of su... OMIM:301013
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia, Aggressive behavior OMIM:615541
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Low-set ears, Aggressive behavior OMIM:618342
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Low-set ears OMIM:614653
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Absent brainstem au... ORPHA:1215
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Mental deterioration OMIM:615924
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hyperactivity, EEG with generalized epileptiform discharg... ORPHA:88616
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy, Papilledema OMIM:618775
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Congestive heart failure OMIM:275000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, EEG abnormality, Low-set ears OMIM:618718
Paragangliomas 3
Pulsatile tinnitus, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Epi... OMIM:605373
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Self-injurious behavior, Sensorineural hearing impairment, Hyperactivity, Aggressive ... OMIM:600430
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Low frustration tolerance, EEG with series of focal spikes, E... ORPHA:168491
Paragangliomas 1
Pulsatile tinnitus, Conductive hearing impairment, Hypertension associated with pheochromocytoma,... OMIM:168000
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Low frustration tolerance, Interictal epileptiform activity, ... ORPHA:163681
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Tachycardia OMIM:221400
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Infantile Krabbe Disease
Psychomotor deterioration, Mental deterioration, Decreased nerve conduction velocity, Irritabilit... ORPHA:206436
Encephalitis Lethargica
Bradycardia, Mental deterioration ORPHA:83600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Pulmonic stenosis, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Cln5 Disease
EEG with generalized slow activity, Anxiety, Hyperactivity, Mental deterioration, EEG with spike-... ORPHA:228360
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Neuroleptic Malignant Syndrome
Arrhythmia, Anxiety, Pulmonary embolism, Hypotension, Abnormal autonomic nervous system physiolog... ORPHA:94093
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Happy demeanor ORPHA:411515
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Hearing impairment, Aggressive behavior ORPHA:457260
Acquired Methemoglobinemia
Arrhythmia, Anxiety, Palpitations, Syncope, Tachycardia ORPHA:464453
Optic Atrophy 11
Hyperactivity, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Anxiety, Hypotension, Myocarditis, Mental deterioration, Bradycardia,... ORPHA:319213
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, EEG with irregular generali... ORPHA:1942
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Progressive neurologic deterio... OMIM:252920
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Hearing impairment, Aggressive behavior ORPHA:369939
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension, Po... OMIM:613870
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Hyperactivity, EEG abnormality, Aggressive behavior OMIM:610042
Adult Krabbe Disease
Mental deterioration, Progressive neurologic deterioration, EEG abnormality, Prolonged brainstem ... ORPHA:206448
Juvenile Huntington Disease
Dementia, Hyperactivity, Irritability ORPHA:248111
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Macrotia, Aggressive behavior OMIM:300558
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation, Aggressive behavior OMIM:261990
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
16P12.1P12.3 Triplication Syndrome
Large earlobe, Nail-biting, Low-set ears, Anxiety, Hyperactivity, Tachycardia, Skin-picking, Atte... ORPHA:485405
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Attention deficit hyperactivity disorder ORPHA:90674
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Proximal Spinal Muscular Atrophy
Bradycardia, Facial diplegia ORPHA:70
Sheehan Syndrome
Palpitations, Sensorineural hearing impairment, Orthostatic hypotension, Bradycardia ORPHA:91355
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Cognitive impairment, Hypertension, Progressive psychomotor deterioration ORPHA:363400
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:300958
Fragile X Syndrome
Self-biting, Hyperactivity, Macrotia OMIM:300624
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, EEG abnormality, Aggressive behavior ORPHA:500180
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Irritability, Hypertension,... ORPHA:449291
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Mood swings, Hyperactivity, Irritability, Atrial fib... ORPHA:525731
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Cognitive impairment, Hyperactivity, Dementia, Aggressive behavio... ORPHA:43
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Hyperactivity, Mental deterioration, Abnormal autonomic nervous system... ORPHA:35069
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Happy demeanor, Bradycardia, Optic atrophy ORPHA:97297
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Hyperactivity, Motor deterioration, Hearing impairment OMIM:252930
Charcot-Marie-Tooth Disease Type 1F
Cognitive impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve c... ORPHA:101085
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Suicidal ideation, Cognitive impairment, Optic ne... ORPHA:909
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Low-set ears, Arrhythmia, Conductive hearing impairment, Hyperactivity, Sen... ORPHA:254346
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Aggressive behavior, Irritability ORPHA:391307
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypotension, Capillary leak, Aggressive behavior, Perica... ORPHA:99826
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Self-mutilation,... OMIM:256800
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Legius Syndrome
Cognitive impairment, Hearing impairment, Hyperactivity, Pulmonic stenosis, Paroxysmal atrial tac... ORPHA:137605
Hydroxykynureninuria
Tachycardia, Congenital sensorineural hearing impairment, Hypotension ORPHA:79155
Mend Syndrome
Low-set ears, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials, Aortic val... ORPHA:401973
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hyperactivity, Hearing impairment OMIM:252900
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Yellow Fever
Reduced ejection fraction, Capillary leak, Supraventricular arrhythmia, Hematemesis, Bradycardia,... ORPHA:99829
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency, Low-set ears OMIM:614437
Paragangliomas 4
Pulsatile tinnitus, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Epi... OMIM:115310
Cockayne Syndrome A
Arrhythmia, Sensorineural hearing impairment, Dementia, Decreased nerve conduction velocity, Abno... OMIM:216400
Cockayne Syndrome Type 1
Hearing impairment, Hypertension, Macrotia, Absent brainstem auditory responses, Optic atrophy, A... ORPHA:90321
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Portal hypertension, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic ... OMIM:609136
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Low-set ears, Hyperactivity, Abnormal pinna morphology, Tricuspid regurgitation, Hear... ORPHA:261211
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Sensorineural hearing impairment, Optic nerve hypoplasia ORPHA:226307
Adenylosuccinase Deficiency
Happy demeanor, Low-set ears, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:103050
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Cockayne Syndrome B
Arrhythmia, Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal audit... OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low frustration tolerance, Low-set ears, Hyperactivity, Aggressive behavior, Emotional lability, ... OMIM:309520
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Aganglionic megacolon ORPHA:52503
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy ORPHA:79404
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Mucopolysaccharidosis Type 2
Cognitive impairment, Arrhythmia, Sensorineural hearing impairment, Conductive hearing impairment... ORPHA:580
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Mental deterioration, Optic atrophy OMIM:610217
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Hyperactivity, Irritability, Protruding ear, Hair-pulling, Hypsarrhythmia ORPHA:447997
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Choreoacanthocytosis
Dilated cardiomyopathy, Decreased amplitude of sensory action potentials, Hyperactivity, Self-inj... ORPHA:2388
Early Infantile Epileptic Encephalopathy
EEG abnormality, Self-injurious behavior, Uni- and bilateral multifocal epileptiform discharges, ... ORPHA:1934
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
EEG abnormality, Conductive hearing impairment, Hyperactivity, Sensorineural hearing impairment, ... ORPHA:353281
Histidinemia
Hyperactivity ORPHA:2157
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Nail-biting, Hyperactivity, Self-mutilation, Abnorma... ORPHA:642

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 Lcorl

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 Lcorl.

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

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MGI Allele Allele Type Produced
Lcorlem1(IMPC)J Exon Deletion Mice

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