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Gene: Lcorl MGI:2651932

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Gene Summary

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

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
hyperactivity Lcorlem1(IMPC)J HOM Early adult 4.88×10-05
preweaning lethality, incomplete penetrance Lcorlem1(IMPC)J HOM   Early adult 0.00
increased aggression Lcorlem1(IMPC)J HOM Early adult 7.22×10-05
abnormal auditory brainstem response Lcorlem1(IMPC)J HOM   Early adult 1.55×10-09
decreased heart rate Lcorlem1(IMPC)J HOM Early adult 1.65×10-05
prolonged RR interval Lcorlem1(IMPC)J HOM Early adult 5.14×10-10
increased exploration in new environment Lcorlem1(IMPC)J HOM Early adult 8.83×10-05

Download data as:  TSV  XLS

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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

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Electroretinography 3

Fundus file

11 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

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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
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment OMIM:614896
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment, Bradycardia OMIM:609924
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... OMIM:601419
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia, Dysphagia OMIM:620265
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Schizophrenia 15
Hyperactivity OMIM:613950
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cln3 Disease
Aggressive behavior, Optic atrophy, Depression, T-wave inversion, Dementia, Bradycardia, Dysphagi... ORPHA:228346
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
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
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Dementia, Progressive hearing impairment, Bradycardia, Dysphagia, Arr... OMIM:609286
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Landau-Kleffner Syndrome
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... ORPHA:98818
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Trimethylaminuria
Hypertension, Tachycardia, Depression OMIM:602079
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... ORPHA:542306
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment OMIM:616277
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Hypsarrhythmia OMIM:617113
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Jaw claudication, Depression, Abnormal glos... ORPHA:221098
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... ORPHA:330001
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete... ORPHA:2382
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Tetanus
Tachycardia, Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, ... ORPHA:3299
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Macrotia, Bradycardia, Atrioventricular block OMIM:614407
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
EEG with burst suppression, Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia OMIM:614498
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Coproporphyria, Hereditary
Hypertension, Tachycardia, Confusion, Depression OMIM:121300
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia OMIM:614702
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia, Low-set ears OMIM:610015
Rasmussen Subacute Encephalitis
Hyperactivity, Increased theta frequency activity in EEG, Emotional lability, EEG with focal epil... ORPHA:1929
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... OMIM:261740
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Tachycardia, Depression, Dementia, Progressive lan... ORPHA:79264
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
D-Glyceric Aciduria
Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypsarrhythmia, Brady... OMIM:220120
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Illum Syndrome
Bradycardia OMIM:208155
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Acitretin/Etretinate Embryopathy
Cupped ear, Microtia, Third degree atrioventricular block, Bradycardia, Bilateral sensorineural h... ORPHA:40366
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized polyspikes, Aggressive behavior, EEG with generalized epilept... ORPHA:163681
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Bradycardia ORPHA:565624
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Bradycardia ORPHA:95716
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Congestive heart failure OMIM:275000
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Hypertension,... ORPHA:449291
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... ORPHA:168491
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... OMIM:620141
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, EEG abnormality, Inappropriate laughter, Polyphagia ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Dysphagia, Hypertension, Agitation, Bradycardia, Hypotension, Ab... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia OMIM:610768
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia OMIM:613327
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Congenital Myopathy 22A, Classic
Neonatal death, Tricuspid regurgitation, Bradycardia OMIM:620351
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Posteriorly rotated ears, Aganglionic megacolon, Cupped ear, Hypertension, Agitation... OMIM:613870
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy OMIM:616881
Serotonin Syndrome
Restlessness, Tachycardia, Confusion, Irritability, Hypertension, Agitation, Hypotension, Mental ... ORPHA:43116
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Lujo Hemorrhagic Fever
Shock, Confusion, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia, M... ORPHA:319213
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation OMIM:261990
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Encephalitis Lethargica
Mental deterioration, Bradycardia ORPHA:83600
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Impulsivity, Optic atrophy, Abnor... ORPHA:35069
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Confusion... ORPHA:99827
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Acquired Methemoglobinemia
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia ORPHA:464453
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Pulmonic stenosis, Hypsarrhythmia OMIM:619239
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre... OMIM:617600
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Progressive language deterioration, Attentio... OMIM:610042
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Sensorineural hearing impairment OMIM:221400
Proximal Spinal Muscular Atrophy
Facial diplegia, Bradycardia, Dysphagia ORPHA:70
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia, Low-set ears OMIM:614653
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Asymmetric septal hyper... OMIM:252920
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Congestive heart failure, Irritability, Hypertension, Palpita... ORPHA:525731
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Progressive hearing impairment, Disinhibition, Atte... ORPHA:43
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Cerebrotendinous Xanthomatosis
Short attention span, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, D... ORPHA:909
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Tachycardia, Abnormal repetitive mannerisms, Hypoten... ORPHA:79155
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia, Sensorineural hearing impairment ORPHA:91355
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Sensorineural hearing impairment, Bradycardia, Dysphagia OMIM:617248
Adult Krabbe Disease
Mental deterioration, EEG abnormality, Prolonged brainstem auditory evoked potentials, Progressiv... ORPHA:206448
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Confusion, Anorexia, Aggressive behavior, Hypovolemia, Capillar... ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 39
Hypsarrhythmia, Sinus bradycardia OMIM:618397
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Postural hypoten... OMIM:256800
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia OMIM:229700
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Pulsatile tinnitus, Palpitations, Conductive hearing impairment, Hypertension associ... OMIM:168000
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Optic atrophy, Dysphagia, Mental deterioration,... OMIM:610217
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Facial palsy, Congesti... ORPHA:31826
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Bradycardia ORPHA:97297
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Hypertension, Macrotia, Abnormality of periph... ORPHA:90321
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Aortic val... ORPHA:401973
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia ORPHA:226307
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Abnormal pinna morphology, Bradycardia, Low-set ears OMIM:614437
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Hypsarrhythmia, Protruding ear, Irritability, Low-set ears, Dysphagi... ORPHA:447997
Choreoacanthocytosis
Compulsive behaviors, Decreased amplitude of sensory action potentials, Self-mutilation of tongue... ORPHA:2388
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Dysphagia, 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 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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