Gene Summary

Name:
leucine rich repeat transmembrane neuronal 1
Synonyms:
4632401D06Rik

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
decreased exploration in new environment Lrrtm1em1(IMPC)Mbp HOM Early adult 7.61×10-10
decreased locomotor activity Lrrtm1em1(IMPC)Mbp HOM   Early adult 3.76×10-06
hyperactivity Lrrtm1em1(IMPC)Mbp HOM Early adult 8.72×10-09
increased exploration in new environment Lrrtm1em1(IMPC)Mbp HOM Early adult 5.09×10-10
abnormal behavior Lrrtm1em1(IMPC)Mbp HOM Early adult 2.46×10-20
abnormal eye morphology Lrrtm1em1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Lrrtm1em1(IMPC)Mbp HOM Early adult 6.59×10-20
abnormal skin morphology Lrrtm1em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Lrrtm1em1(IMPC)Mbp HOM Early adult 1.33×10-20

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 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
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Falls, Shuffling gait, Ine... ORPHA:412066
Panic Disorder 1
Anxiety OMIM:167870
Epilepsy, Progressive Myoclonic, 12
Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depress... OMIM:619191
Frontotemporal Dementia
Frontotemporal dementia, Diminished motivation, Frontal lobe dementia, Apathy, Dementia, Inapprop... OMIM:600274
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Chorea, Benign Hereditary
Gait disturbance, Dementia, Anxiety OMIM:118700
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Dystonia 11, Myoclonic
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Huntington Disease-Like 1
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness OMIM:603218
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Lethargy, Irritability, Restlessness OMIM:605899
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Bradykinesia, Anxiety OMIM:618878
Dystonia 12
Anxiety, Emotional lability, Depression, Dysphagia, Unsteady gait, Bradykinesia OMIM:128235
Huntington Disease-Like 2
Inertia, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, Memory impair... OMIM:606438
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Apathy, Depression, Anxiety, Mental deterioration, Memory impairm... ORPHA:240085
Schizophrenia 15
Hyperactivity OMIM:613950
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Dementia, Ataxia, Depression, Progressive cerebellar ataxia, Irritabi... ORPHA:248111
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Mental deterioration, Personality disorder ORPHA:2382
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Dementia, Depression, Anxiety OMIM:605909
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, No social interact... ORPHA:96369
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... OMIM:619827
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... ORPHA:3077
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety OMIM:609425
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... ORPHA:98818
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Impaired social... ORPHA:168782
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety... OMIM:261600
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis ORPHA:382
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Aggressive behavior, Ataxia OMIM:612716
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Ataxia, Inappropriate laughter, Polyphagia, Broad-based gait ORPHA:411515
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety OMIM:271980
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety OMIM:619467
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Mental deterioration OMIM:615924
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Anxiety, Impulsivity, Abnormal eating behavior ORPHA:101039
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Inability to walk OMIM:618718
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis OMIM:620023
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Bipolar affective disorder, Depressi... ORPHA:485350
Cln5 Disease
Hyperactivity, Aggressive behavior, Inability to walk, Anxiety, Truncal ataxia, Dysdiadochokinesi... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Impulsivity, Dysphagia ORPHA:500180
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Aggressive behavior, Agitation, Anxiety, Restlessness OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 67
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Rasmussen Subacute Encephalitis
Hyperactivity, Cognitive impairment, Inability to walk, Emotional lability, Attention deficit hyp... ORPHA:1929
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Cognitive impairment, Gait disturbance, Dementia, Attention d... ORPHA:43
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Happy demeanor, Ataxia, Inappropriate laughter OMIM:614104
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Ataxia, Polyphagia ORPHA:228402
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder, Progressive... OMIM:610042
Developmental Delay, Language Impairment, And Ocular Abnormalities
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Infantile Neuroaxonal Dystrophy
Hyperactivity, Choking episodes, Gait disturbance, Psychomotor deterioration, Emotional lability,... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsivity, Dysmetria, Menta... OMIM:610217
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Inability to walk, Motor deterioration, Gait disturbance, Men... ORPHA:168491
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Cognitive impairment, Self-injurious behavior, Bipolar affective disorder, Ataxia,... OMIM:601853
Adenylosuccinase Deficiency
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Happy demeanor, Inappropriate... OMIM:103050
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:617600
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Ataxia, Skin-picking, Mental deterioration, Low frustration t... ORPHA:163681
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:449291
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Pica, Hyperactivity, Happy demeanor, Ataxia, Unsteady gait, Broad-based gait OMIM:617865
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, Happy demeanor, Ataxia, Inappropriate laughter, Abnormal eating be... ORPHA:98794
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Self-mutilation, Ataxia ORPHA:52503
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Memory impairment, Abnormal eating behavior, Lethargy, Irrita... ORPHA:247585
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Dysmetria, Difficulty walking, Mental... ORPHA:139396
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Self-mutilation, Emotional lability OMIM:256800
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Akinesia, Choreoathetosis, Gait disturbance, Dementia, Ataxia, Depression, Mental ... OMIM:234200
Argininemia
Hyperactivity, Irritability, Spastic gait OMIM:207800
Choreoacanthocytosis
Hyperactivity, Aggressive behavior, Head-banging, Self-injurious behavior, Hair-pulling, Falls, A... ORPHA:2388

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 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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