Gene Summary

leucine rich repeat transmembrane neuronal 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
shortened ST segment Lrrtm1em1(IMPC)Mbp HOM   Early adult 5.28×10-05
decreased exploration in new environment Lrrtm1em1(IMPC)Mbp HOM Early adult 7.61×10-10
decreased thigmotaxis Lrrtm1em1(IMPC)Mbp HOM Early adult 1.96×10-21
hyperactivity Lrrtm1em1(IMPC)Mbp HOM Early adult 1.57×10-08
abnormal skin morphology Lrrtm1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Lrrtm1em1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Lrrtm1em1(IMPC)Mbp HOM Early adult 1.28×10-20
hypoactivity Lrrtm1em1(IMPC)Mbp HOM   Early adult 1.89×10-06
abnormal behavior Lrrtm1em1(IMPC)Mbp HOM Early adult 6.73×10-21
increased exploration in new environment Lrrtm1em1(IMPC)Mbp HOM Early adult 1.94×10-09

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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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Lrrtm1 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 Lrrtm1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Frontotemporal cerebral atrophy... ORPHA:412066
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Gait disturbance, Ataxia, Dysmetria, ST segment elevation, Cognitive impairment ORPHA:94125
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... OMIM:605361
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai... ORPHA:401901
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Distal 7Q11.23 Microdeletion Syndrome
Bipolar affective disorder, Aggressive behavior, Attention deficit hyperactivity disorder ORPHA:254351
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Immunodeficiency 8
Hyperactivity OMIM:615401
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontotemporal dementia, In... OMIM:600274
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Abnormal cerebral white matter morphology, Frontotemporal ... ORPHA:100070
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Ischemic stroke, ST segment depression, Hypertension, Myoca... ORPHA:90065
Huntington Disease-Like 1
Basal ganglia gliosis, Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Congestive heart failure, Irri... ORPHA:3077
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Bradykinesia, Emotional lability, Craniofacial dystonia, Torticollis, An... ORPHA:71517
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Progressive cerebellar ataxia, Anxiety,... OMIM:604326
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Basal ganglia calcification, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal EKG ORPHA:1177
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Neurofibrillary tangles, Dementia, Abnormal social behavior, Ataxia, Cerebral cort... ORPHA:1020
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Dystonia, Congestive heart failure, Anxiety OMIM:606703
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Cortical dysplasia, Focal cortical dys... OMIM:610042
Graves Disease, Susceptibility To, 1
Congestive heart failure, Irritability, Hyperactivity OMIM:275000
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Nathalie Syndrome
Abnormal EKG OMIM:255990
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykinesia, Anx... OMIM:168605
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Sotos Syndrome 3
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Anxiety, Bradykinesia OMIM:606324
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Young-Onset Parkinson Disease
Impaired social interactions, Dystonia, Dementia, Depression, Apathy, Bradykinesia, Panic attack,... ORPHA:2828
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
11Q22.2Q22.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior, Poor eye contact, Anxiety, Attention... ORPHA:444002
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Impulsivity, Depression, Hyperactivity ORPHA:88616
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy, Microcephaly... ORPHA:391417
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Dementia, Motor deterioration, Abnormal T-wave, Gait aprax... OMIM:312750
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Exercise-Induced Malignant Hyperthermia
Lethargy, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Ataxia,... ORPHA:466650
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impa... ORPHA:309246
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Depression, Abnormal left ventricular function, Laryngeal dystonia, Irrit... ORPHA:36913
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Abnormal T-w... ORPHA:358
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Arrhythmia, Aggressive behavior, Hyperactivity OMIM:600430
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Punctate periventricular T2 hyperintense foci, Depression, Progressive gait a... ORPHA:309271
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Congestive heart failure, Waddling gait, Dilated cardiomyopathy, Cardio... OMIM:310200
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertension, Progressive psychomotor deterioration, Limb dystonia, Hyperact... ORPHA:363400
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abnormal social... ORPHA:309263
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Hypertension, Irritability, Anxiety, Hy... ORPHA:449291
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Asymmetric septal hypertrophy, Aggressive behavior, Hyperac... OMIM:252920
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Cognitive... OMIM:601853
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Hyperactivity OMIM:616809
Friedreich Ataxia
Gait ataxia, Abnormal echocardiogram, Limb ataxia, Ataxia, Congestive heart failure, Abnormal EKG... OMIM:229300
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Inappropriate laughter, Aggressive behavior, Hyp... OMIM:103050
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Hypoplastic hippocampus, Abnormal social behavior, Ataxia, Cerebral cortical... ORPHA:314647
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:64280
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bipolar affective disorder, Dystonia, Disinhibition, Aggres... ORPHA:646
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Tachycardia, Anxiety, Hyperactivity, Attention deficit hyperactivity d... ORPHA:485405
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Ab... ORPHA:309256
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart failure, Irr... ORPHA:525731
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Pseudohypoparathyroidism Type 1B
Depression, Laryngeal dystonia, Irritability, Anxiety, Prolonged QT interval ORPHA:94089
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Hyperactivity, Emotional lab... OMIM:256800
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Hyperactivity OMIM:182290
Lamb-Shaffer Syndrome
Microcephaly, Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Dystonia, Arrhythmia, Aggressive behavior, Cardiac conducti... ORPHA:2131
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Self-injurious behavior, Irritability, Hyperactivity ORPHA:447980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Reduced ejection fraction, Tip-toe gait, Right bundle branch block, Abnormal EKG ORPHA:268
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Depression, Prominent U wave, Bidirectional ventricular ectopy, Prolonged QT interv... OMIM:170390
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Arrhythmia, Ataxia, Prolonged QT interval, Abnormal EKG ORPHA:480864
19P13.12 Microdeletion Syndrome
Arrhythmia, Aortic regurgitation, Self-injurious behavior, Hyperactivity, Mitral regurgitation ORPHA:254346
48,Xxxy Syndrome
Abnormal social behavior, Irritability, Anxiety, Attention deficit hyperactivity disorder, Abnorm... ORPHA:96263
Congenital Sialidosis Type 2
Dysmetria, Abnormal EKG, Telangiectasia, Ataxia ORPHA:93400
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Motor deterioration, Hyperactivity OMIM:252930
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Dementia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, ... OMIM:234200
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... ORPHA:72
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Citrullinemia Type Ii
Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory impairment ORPHA:247585
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... ORPHA:2388
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Memory... ORPHA:139396
Mend Syndrome
Aortic valve stenosis, Hyperactivity OMIM:300960
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Ataxia, Hyperactivity ORPHA:369891
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Fragile X Syndrome
Hyperactivity OMIM:300624
Spastic gait, Irritability, Hyperactivity OMIM:207800
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Hyperactivity OMIM:619239
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:609625
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
African Trypanosomiasis
Arrhythmia, Aggressive behavior, Akinesia, Pericarditis, Difficulty walking, Apathy, Gait disturb... ORPHA:3385
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Depression, Cardiac shunt, Increased pulmonary vascular ... ORPHA:70591
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Anterior pituitary hypoplas... ORPHA:177907
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Ataxia, Hypertension, Congestive heart failure, Euphoria, Tachy... ORPHA:31826
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Cerebral atrophy, Hyperintensity of cerebral white m... ORPHA:1675
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:85293
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Abnormal social behavior, Self-injurious behavior, Impulsivity, ... ORPHA:805
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hyperactivity OMIM:252900
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:363528
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Steinert Myotonic Dystrophy
Inability to walk, Dilated cardiomyopathy, Aggressive behavior, Prolonged QRS complex, Depression... ORPHA:273
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Aggressive behavior, Hyperactivity OMIM:619148
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:229310
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Reduced ejection fraction, Disinhibition, Aggressive behavi... ORPHA:581
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic syncope, Orthostatic hypotension, Syncope ORPHA:230
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Low frustration tolerance, Anxiety, Hyperactivity ORPHA:319182
Friedreich Ataxia 2
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:601992
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Inappropriate crying, Hyperactivity ORPHA:261323
Koolen-De Vries Syndrome
Pulmonic stenosis, Impulsivity, Anxiety, Hyperactivity, Conspicuously happy disposition OMIM:610443
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavior, Small pituitary gland, Atten... ORPHA:93932
T-wave inversion, Abnormal EKG ORPHA:1666
7Q11.23 Microduplication Syndrome
Aggressive behavior, Self-injurious behavior, Unsteady gait, Aortic valve stenosis, Anxiety, Dysm... ORPHA:96121
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure... OMIM:302900
Mend Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:401973
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation, Hyperactivity ORPHA:261211
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Hyperactivity OMIM:252940
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Arrhythmia, Aggressive behavior, Hypertension, Impulsivity,... ORPHA:580
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity ORPHA:468678
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Cardiac conduction abnormality, Self-injurious behavior, Agoraphobia, Emotio... ORPHA:353281
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Abnormal emotion/affect be... ORPHA:642
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Gait disturbance, Aortic valve stenosis, Anxiety, Hyperactivity ORPHA:464306
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Inappropriate laughter, Hypoplasia of the corpus callosum, Abnormal social beha... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Inappropriate laughter, Hypoplasia of the corpus callosum, Abnormal social beha... ORPHA:363958
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Woodhouse-Sakati Syndrome
Dystonia, Abnormal T-wave, Mental deterioration ORPHA:3464
Early Infantile Epileptic Encephalopathy
Hyperactivity, Self-injurious behavior, Episodic ataxia, Dystonia ORPHA:1934
Hyperactivity ORPHA:2157
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Cardiac conduction abnormality, Self-injurious behavior, Agoraphobia, Emotio... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Cardiac conduction abnormality, Self-injurious behavior, Agoraphobia, Emotio... ORPHA:353284
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Woodhouse-Sakati Syndrome
Dystonia, Abnormal T-wave OMIM:241080
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Oculoectodermal Syndrome
Transient ischemic attack, Hypertrophic cardiomyopathy, Hyperactivity OMIM:600268
Monosomy 22Q13.3
Hair-pulling, Hyperactivity ORPHA:48652
Williams Syndrome
Overfriendliness, Depression, Abnormal social behavior, Gait disturbance, Ataxia, Cerebral cortic... ORPHA:904


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 Lrrtm1

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 Lrrtm1.

No publications found that use IMPC mice or data for Lrrtm1.

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MGI Allele Allele Type Produced
Lrrtm1em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Lrrtm1tm445183(L1L2_GT0_LF2A_LacZ_BetactP_neo) Targeting vectors

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