Gene Summary

Name:
LEM domain containing 3
Synonyms:
Man1

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 anxiety-related response Lemd3em1(IMPC)Bay HET   Early adult 1.84×10-05
hyperactivity Lemd3em1(IMPC)Bay HET   Early adult 2.74×10-06
preweaning lethality, complete penetrance Lemd3em1(IMPC)Bay HOM   Early adult 0.00
decreased locomotor activity Lemd3em1(IMPC)Bay HET Early adult 6.09×10-07
abnormal behavior Lemd3em1(IMPC)Bay HET Early adult 1.52×10-08
decreased thigmotaxis Lemd3em1(IMPC)Bay HET Early adult 1.56×10-08

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.

Phenotype associated images not available

Human diseases caused by Lemd3 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.

The table below shows human diseases associated to Lemd3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Osteopoikilosis
Abnormal heart morphology ORPHA:166119
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
12Q14 Microdeletion Syndrome
ORPHA:94063
Melorheostosis With Osteopoikilosis
ORPHA:1879
Buschke-Ollendorff Syndrome
OMIM:166700

The table below shows human diseases predicted to be associated to Lemd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Depression, Attention deficit hyperactivity disorder ORPHA:280397
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Inability to walk, Hyperactivity OMIM:616657
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia, Attention deficit hyperactivity disorder OMIM:618878
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:619639
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Immunodeficiency 8
Hyperactivity OMIM:615401
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Lethargy, Irritability, Impulsivity OMIM:605899
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Inertia, Anxiety, Inappropriate behavior, Bradykine... ORPHA:412066
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, De... ORPHA:248111
Huntington Disease-Like 2
Anxiety, Bradykinesia, Apathy, Irritability, Depression OMIM:606438
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Lennox-Gastaut Syndrome
Falls, Hyperactivity, Personality disorder, Aggressive behavior ORPHA:2382
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:619470
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Cognitive Impairment With Or Without Cerebellar Ataxia
Emotional lability, Dysmetria, Ataxia, Attention deficit hyperactivity disorder OMIM:614306
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Emotional lability, Gait ataxia, Depr... ORPHA:98818
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Broad-based gait ORPHA:411515
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Ataxia, Aggressive behavior OMIM:271980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Impairment in personality functioning, E... ORPHA:96369
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior, Unsteady gait,... ORPHA:228360
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior ORPHA:382
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Unsteady gait, Progressive ... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Autosomal Recessive Non-Syndromic Intellectual Disability
Depression, Impulsivity, Hyperactivity ORPHA:88616
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Impulsivity ORPHA:500180
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Ck Syndrome
Irritability, Hyperactivity, Aggressive behavior ORPHA:251383
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Ck Syndrome
Irritability, Hyperactivity, Aggressive behavior OMIM:300831
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Gait disturbance OMIM:614104
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention deficit hyperactivi... ORPHA:1929
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:300958
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
X-Linked Adrenoleukodystrophy
Disinhibition, Hyperactivity, Aggressive behavior, Inappropriate sexual behavior, Gait disturbanc... ORPHA:43
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior OMIM:610042
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Inability to walk, Aggressive behavior, Inappropriate laughter, Ga... OMIM:103050
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Paroxysmal bursts of laughter ORPHA:228402
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Hyperactivity, Bradykinesia, Emotional lability, Gait ataxia, Dysdiadochokinesis, Impu... OMIM:610217
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Abnormal emotion/affect behavior, Attention deficit hyperac... ORPHA:1942
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Irritability, Depression, A... ORPHA:449291
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder, Depression OMIM:601853
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior... ORPHA:168491
Fragile X Syndrome
Self-biting, Hyperactivity OMIM:300624
Infantile Neuroaxonal Dystrophy
Hyperactivity, Ataxia, Unsteady gait, Emotional lability, Gait disturbance, Impulsivity ORPHA:35069
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Athetosis ORPHA:52503
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Aggressive behavior ORPHA:391307
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Hyperactivity, Ataxia, Aggressive behavior OMIM:618430
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Hyperactivity, Ataxia, Aggressive behavior, Self-mutilation, Skin-picking ORPHA:163681
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Gait imbalance, Broad-based gait ORPHA:98794
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Skin-picking, Attention deficit hyperactivity disorder ORPHA:485405
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Low frustration tolerance, Self-mutilation OMIM:300486
Glass Syndrome
Happy demeanor, Broad-based gait, Aggressive behavior, Hyperactivity OMIM:612313
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior OMIM:252920
Angelman Syndrome
Hyperactivity, Broad-based gait, Progressive gait ataxia, Paroxysmal bursts of laughter OMIM:105830
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Anxiety, Inability to walk, Hyperactivity, Ataxia, Aggre... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Hyperactivity, Low frustration tolerance, Aggressive behavior OMIM:309520
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
47,Xyy Syndrome
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder ORPHA:8
Citrullinemia Type Ii
Irritability, Hyperactivity, Aggressive behavior, Lethargy ORPHA:247585
Argininemia
Irritability, Spastic gait, Hyperactivity OMIM:207800
Rauch-Steindl Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:619695
Choreoacanthocytosis
Socially inappropriate behavior, Falls, Self-injurious behavior, Anxiety, Bradykinesia, Hyperacti... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Bradykinesia, Akinesia, Ataxia, Gait disturbance, Depression OMIM:234200
Histidinemia
Hyperactivity ORPHA:2157
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Tuberous Sclerosis Complex
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Depression, Impulsivity, At... ORPHA:805
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Gait ataxia, Broad-based ga... OMIM:614756
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Irritability ORPHA:447997
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Self-mutilation, Abnormal emotion/affect behavior, Impulsivity, Diffi... ORPHA:642
Isolated Osteopoikilosis
Abnormal heart morphology ORPHA:166119
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
12Q14 Microdeletion Syndrome
ORPHA:94063
Buschke-Ollendorff Syndrome
OMIM:166700
Melorheostosis With Osteopoikilosis
ORPHA:1879

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 Lemd3

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 Lemd3.

No publications found that use IMPC mice or data for Lemd3.

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MGI Allele Allele Type Produced
Lemd3em1(IMPC)Bay Exon Deletion Mice
Lemd3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lemd3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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