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Gene: Lmtk3 MGI:3039582

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lemur tyrosine kinase 3
Synonyms:
AATYK3,  Aatyk3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Lmtk3 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 Lmtk3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Obesity, Reduced social reciprocity ORPHA:329249
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity, Pachygyria OMIM:606053
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Huntington Disease
Decreased body mass index, Depression, Oral-pharyngeal dysphagia, Hostility, Difficulty walking, ... ORPHA:399
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Irritability, Disinhibition OMIM:600274
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia, Hypergona... OMIM:614963
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Primary amenorrhea OMIM:614962
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Kleine-Levin Syndrome
Depression, Polydipsia, Abnormal eating behavior, Decreased libido, Sweet craving, Irritability, ... ORPHA:33543
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Failure to thrive, Polymicrogyria, Self-mutilation, Abnormality of neuronal migrat... OMIM:604317
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy, Simplified gyral ... OMIM:619470
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity, Delayed early... OMIM:618090
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Dystonia, Motor stereotypy OMIM:617820
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior ORPHA:261229
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Weight loss, Hyperactivity, Ataxia, Dyst... ORPHA:248111
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71526
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Stxbp1-Related Encephalopathy
Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Obesity, Overfriendliness OMIM:620439
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Emotional lability, Impulsivity OMIM:615538
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Tremor, Ataxia OMIM:300983
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity, Broad-based gait ORPHA:171829
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Ataxia OMIM:615924
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... OMIM:618718
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Pachygyria, Aggressive behavior, Attention defic... OMIM:619827
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Obesity, Hypogonadism, Skin-picking, Polyphagia,... OMIM:615547
Wagro Syndrome
Obesity, Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, A... OMIM:612469
Ck Syndrome
Polymicrogyria, Slender build, Irritability, Aggressive behavior, Hyperactivity, Pachygyria ORPHA:251383
Joubert Syndrome 10
Frequent temper tantrums, Obesity, Dysmetria, Decreased body weight, Polyphagia OMIM:300804
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Decreased body weight... ORPHA:561854
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Irritability ORPHA:2382
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Action tremor, Tremor, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysto... OMIM:619738
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polyphagia, Aggressive behavior, Excessive shyness OMIM:616831
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity, Failure to thrive OMIM:618362
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Emotional lability, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Hypergonado... ORPHA:179494
Ck Syndrome
Polymicrogyria, Slender build, Irritability, Aggressive behavior, Hyperactivity, Pachygyria OMIM:300831
Hsd10 Disease
Tremor, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Large for gestational age, Small for gestational age, Agitation ORPHA:324575
Temple Syndrome
Polyphagia, Obesity, Small for gestational age ORPHA:254516
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Obesity, Abnormal social behavior ORPHA:444002
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Inability to walk, Delayed menarche, Inappropriate lau... ORPHA:72
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276556
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Landau-Kleffner Syndrome
Depression, Gait ataxia, Emotional lability, Aggressive behavior, Attention deficit hyperactivity... ORPHA:98818
Man1B1-Cdg
Broad-based gait, Resting tremor, Periventricular heterotopia, Polyphagia, Truncal obesity ORPHA:397941
Gand Syndrome
Tics, Inappropriate laughter, Hyperactivity OMIM:615074
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276580
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Emotional lability, Tremor, Irritability, Polyphagia, Hyperactivity ORPHA:525731
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Inability to walk, Bruxism, Inappropriate laughter, Ga... ORPHA:3095
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Hypergonadotropic hypogonadism OMIM:606407
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Reduced social reciproci... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Gait disturban... OMIM:614104
Obesity Due To Congenital Leptin Deficiency
Obesity, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:66628
Cebalid Syndrome
Polyphagia, Polymicrogyria OMIM:618774
Developmental And Epileptic Encephalopathy 109
Crouch gait, Gait ataxia, Hyperactivity, Failure to thrive OMIM:620145
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Polymicrogyria, Hypogonadism, Gait ataxia, Emotional lability, Tremor, Aggressive behavior, Hyper... OMIM:300354
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling... OMIM:620445
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Reduced social reciprocity, Attention deficit hyperactivity... ORPHA:163976
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Young-Onset Parkinson Disease
Depression, Male sexual dysfunction, Female sexual dysfunction, Gait imbalance, Restless legs, Ag... ORPHA:2828
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Insulinoma
Increased body weight, Polyphagia, Tremor ORPHA:97279
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity, Failure to thrive OMIM:615286
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... OMIM:620242
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Myoclonic-Astatic Epilepsy
Abnormal emotion, Tremor, Reduced social reciprocity, Attention deficit hyperactivity disorder, H... ORPHA:1942
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177904
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Polyphagi... ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Hypogonadism, Obesity, Primary amenorrhea, Polyphagi... ORPHA:398079
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, Motor stereotypy ORPHA:391307
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Obes... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Reduced social... OMIM:156200
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity, Failure to thrive ORPHA:369939
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Hypogonadism, Increased body weight, Polyphagia, Ski... ORPHA:398069
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilation, Stereotypical hand... ORPHA:163681
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Leukodystrophy, Hypomyelinating, 13
Ataxia, Failure to thrive, Exaggerated startle response, Irritability OMIM:616881
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity, Decreased body weight OMIM:300958
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Failure to thrive, Stereotypical body rocking, Unsteady gait, Tongue thrusting,... OMIM:617865
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Failure to thrive ORPHA:95427
48,Xxxy Syndrome
Hypogonadism, Obesity, Azoospermia, Tremor, Irritability, Attention deficit hyperactivity disorde... ORPHA:96263
Gangliocytoma
Polyphagia, Impotence, Decreased female libido, Amenorrhea ORPHA:251937
X-Linked Creatine Transporter Deficiency
Self-mutilation, Cachexia, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Failure to thrive in infancy, Obesity, Primary amenor... OMIM:176270
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Prader-Willi Syndrome
Failure to thrive, Hypogonadism, Primary amenorrhea, Polyphagia, Attention deficit hyperactivity ... ORPHA:739
Infantile Neuroaxonal Dystrophy
Emotional lability, Dystonia, Unsteady gait, Gait disturbance, Hyperactivity, Ataxia, Choking epi... ORPHA:35069
47,Xyy Syndrome
Azoospermia, Reduced social reciprocity, Impulsivity, Attention deficit hyperactivity disorder, H... ORPHA:8
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Dysmetria, Reduced social reciprocity, Aggressive behavior, Pol... ORPHA:96121
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive OMIM:619239
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation ORPHA:424
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness ORPHA:251028
Citrullinemia Type Ii
Decreased body mass index, Delayed menarche, Abnormal eating behavior, Tremor, Irritability, Aggr... ORPHA:247585
Adenylosuccinase Deficiency
Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Aggressive behavior, Opi... OMIM:103050
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Failure to thrive, Exaggerated startle response, Irritability OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Pseudohypoparathyroidism Type 1C
Depression, Laryngeal dystonia, Obesity, Irritability, Polyphagia, Oligomenorrhea, Hypergonadotro... ORPHA:79444
Rett Syndrome, Congenital Variant
Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, Pachygyria, Dystonia, Atheto... OMIM:613454
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Emotional lability, Dysmetria, Intention tremor, Hyperactivity, Dystonia, Dysphagia,... OMIM:610217
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior, Agitation, Disinhibition ORPHA:1020
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation OMIM:618056
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H... ORPHA:43
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... ORPHA:404448
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity ORPHA:251004
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Bruxism, Obesity, Reduced social reciprocity, Irritability, Polyphagia, Attent... OMIM:615873
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Angelman Syndrome
Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Limb tremor, Ataxia, Paroxysma... OMIM:105830
X-Linked Acrogigantism
Ataxia, Polyphagia, Hypogonadism, Increased body mass index ORPHA:300373
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor, Hyperactivity, Agitation ORPHA:99819
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced... OMIM:300912
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Chor... OMIM:612716
Pseudohypoparathyroidism Type 1A
Depression, Laryngeal dystonia, Obesity, Irritability, Polyphagia, Oligomenorrhea, Choreoathetosi... ORPHA:79443
Tay-Sachs Disease
Depression, Laryngeal dystonia, Inability to walk, Dysmetria, Tremor, Gait disturbance, Dysphagia... ORPHA:845
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Irritability, Hyperactivity, Exaggerated startle response, Dystonia, Impulsivity OMIM:620423
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Obesity, Emotional lability, Reduced social reci... ORPHA:293987
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Oligomenorrhea, Abdominal obesity OMIM:219090
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social... ORPHA:309256
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Simplified gyral pattern, Hyperactivity, Ataxia OMIM:620047
Craniopharyngioma
Hypogonadism, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:54595
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... OMIM:620330
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Choreoacanthocytosis
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of ambulation, Weight loss,... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Blepharospasm, Depression, Akinesia, Obsessive-compulsive trait, Tremor, Motor tics,... OMIM:234200
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Intention tremor, Progressive gait ataxia, Dystonia, Abnormal social behavior ORPHA:309263
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Failure to thrive, Exaggerated startle response, Dystonia, Impaired o... ORPHA:521426
Weaver Syndrome
Polyphagia OMIM:277590
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Dysphagia, Failure to thrive, Exaggerated startle response OMIM:617527
Metachromatic Leukodystrophy, Adult Form
Depression, Difficulty walking, Emotional lability, Progressive gait ataxia, Dystonia, Intention ... ORPHA:309271
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Abnormal cortical gyration, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive... ORPHA:314647
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Argininemia
Spastic gait, Irritability, Hyperactivity, Anorexia OMIM:207800
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Niemann-Pick Disease Type C
Depression, Limb dystonia, Low frustration tolerance, Axial dystonia, Disinhibition, Tremor, Aggr... ORPHA:646
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Fg Syndrome Type 1
Broad-based gait, Slender build, Attention deficit hyperactivity disorder, Compulsive behaviors, ... ORPHA:93932
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Obesity, Reduced social reciprocity, Skin-picking, Attent... ORPHA:177907
Asparagine Synthetase Deficiency
Failure to thrive, Tremor, Irritability, Exaggerated startle response, Simplified gyral pattern OMIM:615574
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Hypogonadism, Obesity, Polyphagia, Gait disturbance, ... ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Broad-based gait, Exaggerated startle response, Ataxia ORPHA:438216
Sandhoff Disease
Impotence, Exaggerated startle response, Ataxia OMIM:268800
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Decreased fertility in females, Decreased fertility OMIM:269700
Chromosome 1P36 Deletion Syndrome, Distal
Polymicrogyria, Obesity, Oppositional defiant disorder, Self-mutilation, Reduced social reciproci... OMIM:607872
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Decreased fertility in females OMIM:608594
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Dysgyria, Tremor, Exaggerated startle response OMIM:620327
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Mend Syndrome
Abnormal social behavior, Aggressive behavior, Hyperactivity, Failure to thrive ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Exaggerated startle response, Pachygyria, Agyria, Lissence... OMIM:253800
Histidinemia
Hyperactivity ORPHA:2157
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Exaggerated startle response, Ataxia OMIM:620451
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder... ORPHA:363958
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Chordee, Dysphagia, Exaggerated startle response, Motor... OMIM:619522
Williams Syndrome
Depression, Failure to thrive in infancy, Obesity, Gait imbalance, Overfriendliness, Dysmetria, T... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Stereotypical hand wringing, Exaggerated startle response, D... ORPHA:438213
Alström Syndrome
Irregular menstruation, Delayed menarche, Obesity, Polyphagia, Truncal obesity, Ataxia, Oligozoos... ORPHA:64

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 Lmtk3

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 Lmtk3.

No publications found that use IMPC mice or data for Lmtk3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lmtk3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lmtk3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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