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 1.07×10-14
decreased locomotor activity Lrrtm1em1(IMPC)Mbp HOM   Early adult 7.88×10-07
decreased thigmotaxis Lrrtm1em1(IMPC)Mbp HOM Early adult 3.63×10-14
increased exploration in new environment Lrrtm1em1(IMPC)Mbp HOM Early adult 4.71×10-10
decreased anxiety-related response Lrrtm1em1(IMPC)Mbp HOM Early adult 2.23×10-15
abnormal behavior Lrrtm1em1(IMPC)Mbp HOM Early adult 3.58×10-14
abnormal eye morphology Lrrtm1em1(IMPC)Mbp HOM Early adult 0.00
increased monocyte cell number Lrrtm1em1(IMPC)Mbp HOM   Early adult 7.45×10-05
hyperactivity Lrrtm1em1(IMPC)Mbp HOM Early adult 3.50×10-07
abnormal skin morphology Lrrtm1em1(IMPC)Mbp HOM Early adult 0.00

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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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Bradykinesia, Frontotemporal dementia, Memory impairment, Falls, Shufflin... ORPHA:412066
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Frontotemporal Dementia
Irritability, Frontotemporal dementia, Polyphagia, Frontal lobe dementia, Inappropriate laughter,... OMIM:600274
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Lethargy, Aggressive behavior OMIM:605899
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Childhood Disintegrative Disorder
Abnormal emotion, Motor deterioration, Progressive language deterioration, Reduced social recipro... ORPHA:168782
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Lennox-Gastaut Syndrome
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Landau-Kleffner Syndrome
Steppage gait, Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention ... ORPHA:98818
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Memory impairment, Hyperactivity, Attention de... OMIM:619827
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Mental deterioration OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu... OMIM:615516
Hsd10 Disease
Abnormal social behavior, Short attention span, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Foxg1 Syndrome
Difficulty walking, Inability to walk, Stereotypical hand wringing, Cognitive impairment, Choreoa... ORPHA:561854
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Motor stereotypy, Aggressive behavior OMIM:619470
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Short attention span, Abnormal so... ORPHA:444002
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Broad-based gait, Short attention span, Impulsivity, Ataxia, Red... OMIM:617854
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Inappropriate laughter, Ataxia ORPHA:411515
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Limb ataxia, Depression, Dysdiadochokinesis, Compulsive behaviors, Gait apraxia, Co... OMIM:615157
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Young-Onset Parkinson Disease
Bradykinesia, Agitation, Gait imbalance, Depression, Short attention span, Impulsivity, Frontal l... ORPHA:2828
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Depression, Compulsive behaviors, Self-injurious behavior, Aggressive behavior OMIM:619467
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Myeloprolif... ORPHA:100924
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Hyperactivity, Depression, Recurrent hand flapping, Short... ORPHA:449291
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hyperlysinemia, Type I
Anemia, Hyperactivity, Dysdiadochokinesis, Short attention span, Cognitive impairment OMIM:238700
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Ataxia, Reduced social reciprocity, Motor ster... OMIM:610042
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Motor stereotypy, Lymphopenia, Aggressive behavior ORPHA:391307
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Short attention span, Dysphoria, Motor stereotypy, Attention deficit h... OMIM:620242
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Cognitive impairment, Disinhibition, Dementia, Attention deficit... ORPHA:43
Infantile Neuroaxonal Dystrophy
Hyperactivity, Emotional lability, Short attention span, Impulsivity, Gait disturbance, Choking e... ORPHA:35069
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Depression, Punding, Abnormal social behavior ORPHA:64280
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Inability to walk, Hyperactivity, Low frustration tolerance, Motor de... ORPHA:168491
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Graves Disease
Hyperactivity, Irritability, Polyphagia OMIM:275000
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Emotional lability, Dysdiadochokinesis, Short attention span, Impuls... OMIM:610217
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Progressive psychomotor deterioration, Abnormal social behavior, Memory impai... ORPHA:309271
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability, Short attent... ORPHA:309263
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Short... ORPHA:98794
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Citrullinemia Type Ii
Irritability, Memory impairment, Hyperactivity, Confusion, Restlessness, Delirium, Mania, Abnorma... ORPHA:247585
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Memory impairment, Hyperactivity, Confusion, Short attenti... ORPHA:139396
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Bradykinesia, Akinesia, Dementia, Hyperactivity, Depression, Gait dis... OMIM:234200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hyperactivity, Decreased proportion of C... ORPHA:760
Argininemia
Anorexia, Irritability, Spastic gait, Reduced erythrocyte arginase activity, Hyperactivity OMIM:207800
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Irritability, Abnormal aggressive, impulsive or violent... ORPHA:96263
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia ORPHA:309256
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia OMIM:620047
Niemann-Pick Disease Type C
Abnormal social behavior, Depression, Low frustration tolerance, Compulsive behaviors, Gait distu... ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Memory impairment, Nonprogressive cerebellar ataxia, Ataxia, Unsteady g... ORPHA:314647
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Depression, Ataxia, Choreoathetosis, Aggressive behavior OMIM:612716
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior, Broad-b... ORPHA:93932
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Depression, Impulsivity, Repetitive compulsive behavior,... ORPHA:805
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal aggressive, impulsive or violent behavior, Inability to walk, Abnormal soc... ORPHA:1675
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
Histidinemia
Hyperactivity ORPHA:2157
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Agenesis of corpus callosum, Overfriendliness, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Agenesis of corpus callosum, Overfriendliness, ... ORPHA:363958
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353277
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Williams Syndrome
Gait imbalance, Abnormal social behavior, Depression, Compulsive behaviors, Gait disturbance, Ata... ORPHA:904

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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