banner
Genes Phenotypes Help, News, Blog

Gene: Lmtk3 MGI:3039582

Log in to follow
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
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pick Disease Of Brain
Irritability, Emotional blunting, Polyphagia, Inappropriate laughter, Disinhibition, Motor stereo... OMIM:172700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior 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
Obesity, Reduced social reciprocity, Polyphagia, Aggressive behavior ORPHA:329249
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Reduced social reciprocity, Inability to walk, Motor stereotypy OMIM:606053
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Huntington Disease
Irritability, Agitation, Decreased body mass index, Difficulty walking, Gait imbalance, Oral-phar... ORPHA:399
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Frontotemporal Dementia
Irritability, Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter, Ataxia ORPHA:411515
Leptin Receptor Deficiency
Emotional lability, Polyphagia, Hypergonadotropic hypogonadism, Obesity, Abnormal eating behavior... OMIM:614963
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Obesity, Ataxia, Aggressive behavior OMIM:620270
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Resting ... ORPHA:3077
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Hypogonadism, Primary amenorrhea OMIM:614962
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Depression, Decreased libido, Poly... ORPHA:33543
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Simplified gyral pattern OMIM:613402
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Graves Disease
Hyperactivity, Irritability, Polyphagia, Weight loss OMIM:275000
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Polymicrogyria, Gray matter heterotopia, Impulsivity, Failure to thrive, Abnormali... OMIM:604317
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Simplified gyral pattern, Motor stereotypy, Aggressive b... OMIM:619470
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Obesity, Polyphagia ORPHA:369873
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Delayed early-childhood social milestone development, Tremor, G... OMIM:618090
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Unsteady gait, Aggressive behavior OMIM:301107
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Reduced social reciprocity, Motor stereotypy, Self-injurious behavior OMIM:617820
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Aggressive behavior ORPHA:261229
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia OMIM:618406
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depression, Gait at... ORPHA:248111
Obesity And Hypopigmentation
Obesity, Polyphagia OMIM:620195
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Decreased body weight, Polyphagia OMIM:620085
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Morm Syndrome
Hyperactivity, Truncal obesity, Aggressive behavior ORPHA:75858
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... ORPHA:228402
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71526
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Failure to thrive, Motor stereotypy, Small for gestational age, Aggre... OMIM:609425
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Tremor, Dystonia, Ataxia ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Overfriendliness OMIM:620439
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Emotional lability, Polyphagia, Impulsivity OMIM:615538
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Aggressive behavior OMIM:300983
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia, Broad-based gait ORPHA:171829
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:615924
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, 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
Inappropriate behavior, Nail-biting, Lissencephaly, Hyperactivity, Pachygyria, Attention deficit ... OMIM:619827
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Polyphagia, Compulsive behaviors, Obesi... OMIM:612469
Schaaf-Yang Syndrome
Inability to walk, Polyphagia, Impulsivity, Skin-picking, Obesity, Hypogonadism, Failure to thriv... OMIM:615547
Ck Syndrome
Irritability, Hyperactivity, Polymicrogyria, Slender build, Pachygyria, Aggressive behavior ORPHA:251383
Lennox-Gastaut Syndrome
Hyperactivity, Irritability, Falls, Aggressive behavior ORPHA:2382
Foxg1 Syndrome
Difficulty walking, Inability to walk, Decreased body weight, Stereotypical hand wringing, Choreo... ORPHA:561854
Joubert Syndrome 10
Decreased body weight, Polyphagia, Frequent temper tantrums, Obesity, Dysmetria OMIM:300804
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Tremor, Action tremor, Dystonia, Ataxia, Dysphagia, Reduced social reciprocity, Aggre... OMIM:619738
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Truncal obesity, Irregular menstruation OMIM:615986
Luscan-Lumish Syndrome
Polyphagia, Excessive shyness, Obesity, Irregular menstruation, Aggressive behavior OMIM:616831
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Failure to thrive, Aggressive behavior OMIM:618362
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Hypoplasia of the ovary, Polyphagia, Hypergonadotropic hypogonadism, Obesity,... ORPHA:179494
Ck Syndrome
Irritability, Hyperactivity, Polymicrogyria, Slender build, Pachygyria, Aggressive behavior OMIM:300831
Hsd10 Disease
Abnormal social behavior, Tremor, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Agitation, Polyphagia ORPHA:324575
Temple Syndrome
Small for gestational age, Obesity, Polyphagia ORPHA:254516
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors, Abnormal social behavior ORPHA:444002
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Angelman Syndrome
Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flap... ORPHA:72
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Polyphagia ORPHA:276556
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Depression, Emotional lability, Impulsivity, Gait ataxia, Attention... ORPHA:98818
Man1B1-Cdg
Broad-based gait, Resting tremor, Polyphagia, Periventricular heterotopia, Truncal obesity ORPHA:397941
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Agitation, Polyphagia ORPHA:276575
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Emotional lability, Hyperactivity, Tremor, Polyphagia, Failure to thrive ORPHA:525731
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Agitation, Polyphagia ORPHA:276580
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Tremor... ORPHA:3095
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Depression, Compulsive behaviors, Self-injurious behavior, Aggressive behavior OMIM:619467
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia, Aggressive behavior ORPHA:500180
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Hypergonadotropic hypogonadism OMIM:606407
Body Mass Index Quantitative Trait Locus 19
Obesity, Polyphagia OMIM:617885
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Depression, Resting tremor, Dysdiadochokinesis, Tremor, Compulsive behaviors, Gait a... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Stereotypical hand wringing, Gait disturbance, Inappropriate laughter, Ataxia, Mot... OMIM:614104
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Polyphagia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea ORPHA:66628
Cebalid Syndrome
Polymicrogyria, Polyphagia OMIM:618774
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Failure to thrive, Crouch gait, Gait ataxia OMIM:620145
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Polymicrogyria, Emotional lability, Tremor, Gait ataxia, Simplified gyral pattern,... OMIM:300354
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Waddling gait, Impulsivity, Gait ataxia, Self-mutilation, Paroxysmal bursts of lau... OMIM:620445
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Failure to thrive, Reduced social reciprocity, Attention deficit ... ORPHA:163976
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Autism, Susceptibility To, 3
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608049
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Childhood Disintegrative Disorder
Abnormal emotion, Reduced social reciprocity, Motor stereotypy ORPHA:168782
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Young-Onset Parkinson Disease
Agitation, Gait imbalance, Depression, Tremor, Impulsivity, Restless legs, Male sexual dysfunctio... ORPHA:2828
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Exces... ORPHA:449291
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Failure to thrive, Dysphoria, Motor stereotypy, Attention deficit hype... OMIM:620242
Insulinoma
Tremor, Increased body weight, Polyphagia ORPHA:97279
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Aggressive behavior OMIM:615286
Myoclonic-Astatic Epilepsy
Abnormal emotion, Hyperactivity, Tremor, Ataxia, Unsteady gait, Reduced social reciprocity, Atten... ORPHA:1942
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Infertility, Polyphagia, Failure to thrive,... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Bruxism, Recurrent hand flapping, Truncal obesity OMIM:613192
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Infertility, Polyphagia, Failure to thrive,... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Infertility, Polyphagia, Failure to thrive,... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Abnormal temper tantrums, Infertility, Polyphagia, Failure to thrive, Skin-picking, Perisylvian p... ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Infertility, Polyphagia, Failure to thrive, Skin-picking, Obesity, Hypo... ORPHA:398079
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Premature ovarian insufficiency, Hyperactivity, Motor stereotypy, Aggressive behavior ORPHA:391307
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Ataxia, Reduced social reciprocity, ... OMIM:156200
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Failure to thrive, Aggressive behavior ORPHA:369939
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia, Recurrent hand flapping, Self-biting OMIM:300624
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Infertility, Increased body weight, Polyphagia, Compulsive behaviors, I... ORPHA:398069
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Tongue thrusting, Oculogyric crisis, Emotional lability, Athetosis, Bl... OMIM:608643
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Abnormal social behavior, Punding, Depression ORPHA:64280
Leukodystrophy, Hypomyelinating, 13
Irritability, Failure to thrive, Ataxia, Exaggerated startle response OMIM:616881
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait, Aggressive behavior OMIM:300958
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tongue thrusting, Broad-based gait, Hyperactivity, Failure to thrive, Stereotypical body rocking,... OMIM:617865
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Azoospermia, Infertility, Tremor, Obesity, Hypogonadism, ... ORPHA:96263
X-Linked Creatine Transporter Deficiency
Hyperactivity, Cachexia, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Gangliocytoma
Amenorrhea, Decreased female libido, Polyphagia, Impotence ORPHA:251937
Prader-Willi Syndrome
Infertility, Polyphagia, Oligomenorrhea, Failure to thrive in infancy, Obesity, Class III obesity... OMIM:176270
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, Attention deficit hypera... OMIM:617600
Prader-Willi Syndrome
Infertility, Polyphagia, Failure to thrive, Perisylvian polymicrogyria, Hypogonadism, Primary ame... ORPHA:739
Infantile Neuroaxonal Dystrophy
Hyperactivity, Emotional lability, Impulsivity, Gait disturbance, Choking episodes, Dystonia, Ata... ORPHA:35069
47,Xyy Syndrome
Male infertility, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, Reduced social recipr... ORPHA:8
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Obesity, Collectionism, Simplified gyral pattern, Motor stereotypy, Un... ORPHA:96121
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive OMIM:619239
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Weight loss, Hand tremor, Small for gestational age ORPHA:424
Citrullinemia Type Ii
Irritability, Decreased body mass index, Hyperactivity, Tremor, Delayed menarche, Restlessness, M... ORPHA:247585
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Emotional lability, Polyphagia, Restlessness, Self-mutilation, Aggressive behavior ORPHA:251028
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Gait ataxia, Inappropriate laughter, Opisthotonus, Self-mutilat... OMIM:103050
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Failure to thrive, Inability to walk, Exaggerated startle response OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Pseudohypoparathyroidism Type 1C
Irritability, Depression, Polyphagia, Hypergonadotropic hypogonadism, Oligomenorrhea, Obesity, La... ORPHA:79444
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Athetosis, Dystonia, Simplified gyral pattern, Pachygyria, Motor ... OMIM:613454
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Emotional lability, Dysdiadochokinesis, Impulsivity, Gait ataxia, Intention tremor... OMIM:610217
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Disinhibition, Ataxia, Abnormal social behavior ORPHA:1020
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
X-Linked Adrenoleukodystrophy
Hyperactivity, Impotence, Gait disturbance, Disinhibition, Attention deficit hyperactivity disord... ORPHA:43
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness ORPHA:100924
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Compulsive behaviors, Reduced so... ORPHA:404448
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Polyphagia ORPHA:251004
Helsmoortel-Van Der Aa Syndrome
Irritability, Hyperactivity, Polyphagia, Compulsive behaviors, Failure to thrive, Obesity, Dyspha... OMIM:615873
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Angelman Syndrome
Broad-based gait, Hyperactivity, Obesity, Limb tremor, Ataxia, Progressive gait ataxia, Paroxysma... OMIM:105830
X-Linked Acrogigantism
Ataxia, Polyphagia, Hypogonadism, Increased body mass index ORPHA:300373
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Failure to thrive, Stereotyp... OMIM:300912
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Depression, Tremor, Dystonia, Ataxia, Choreoathetosis, Aggressi... OMIM:612716
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Pseudohypoparathyroidism Type 1A
Irritability, Depression, Polyphagia, Laryngeal dystonia, Hypergonadotropic hypogonadism, Oligome... ORPHA:79443
Tay-Sachs Disease
Inability to walk, Depression, Tremor, Laryngeal dystonia, Gait disturbance, Exaggerated startle ... ORPHA:845
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia OMIM:620423
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Depression, Emotional lability, Polyphagia, Compulsive behaviors, Obesity, Reduced so... ORPHA:293987
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Oligomenorrhea, Obesity, Abdominal obesity OMIM:219090
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Emotional lability, Gait ataxia, Dystonia, Progressive ga... ORPHA:309256
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia, Emotional lability, Simplified gyral pattern OMIM:620047
Craniopharyngioma
Obesity, Hypogonadotropic hypogonadism, Polyphagia, Hypogonadism ORPHA:54595
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, D... OMIM:620330
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Lingual dystonia, Lim... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Akinesia, Hyperactivity, Depression, Tremor, Blepharospasm, Gait dist... OMIM:234200
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Emotional lability, Intention tremor, Dystonia, Progressive gait ataxia 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, Exaggerated startle response, Failure to thrive, Dystonia, Impaired o... ORPHA:521426
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Weaver Syndrome
Polyphagia OMIM:277590
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Abnormal social behavior, Depression, Emotional lability, Intention tremor, D... ORPHA:309271
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Abnormal cortical gyration, Dysphagia, Exaggerated startle response OMIM:617527
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar... ORPHA:314647
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Argininemia
Hyperactivity, Irritability, Anorexia, Spastic gait OMIM:207800
Niemann-Pick Disease Type C
Abnormal social behavior, Axial dystonia, Depression, Low frustration tolerance, Tremor, Compulsi... ORPHA:646
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Fg Syndrome Type 1
Abnormal social behavior, Broad-based gait, Compulsive behaviors, Slender build, Attention defici... ORPHA:93932
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Asparagine Synthetase Deficiency
Irritability, Tremor, Exaggerated startle response, Failure to thrive, Simplified gyral pattern OMIM:615574
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
1P36 Deletion Syndrome
Polyphagia, Gait disturbance, Failure to thrive, Obesity, Dysphagia, Hypogonadism, Motor stereoty... ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Sandhoff Disease
Ataxia, Impotence, Exaggerated startle response OMIM:268800
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Polyphagia OMIM:269700
Chromosome 1P36 Deletion Syndrome, Distal
Polymicrogyria, Polyphagia, Oppositional defiant disorder, Obesity, Dysphagia, Pachygyria, Reduce... OMIM:607872
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Polyphagia 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
Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Mend Syndrome
Hyperactivity, Failure to thrive, Abnormal social behavior, Aggressive behavior ORPHA:401973
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Depression, Impulsivity, Repetitive compulsive behavior,... ORPHA:805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Agyria, Exaggerated startle response, Pachygyria, Lissence... OMIM:253800
Histidinemia
Hyperactivity ORPHA:2157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia OMIM:620451
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Inability to walk, Abnormal aggressive, impulsive or viol... 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
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
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Slender build, Inappropriate laughter, Overfriendliness, Attention defi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Slender build, Inappropriate laughter, Overfriendliness, Attention defi... ORPHA:363958
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Chordee, Dysphagia, Motor stereotypy, Attention deficit hyperactivi... OMIM:619522
Williams Syndrome
Gait imbalance, Abnormal social behavior, Depression, Tremor, Compulsive behaviors, Gait disturba... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Stereotypical hand wringing, D... ORPHA:438213
Alström Syndrome
Decreased fertility in males, Delayed menarche, Polyphagia, Oligozoospermia, Hypergonadotropic hy... 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter