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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
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... 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
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Huntington Disease
Decreased body mass index, Dystonia, Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behav... ORPHA:399
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Frontotemporal Dementia
Irritability, Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior ORPHA:329249
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia OMIM:620270
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional... OMIM:614963
Leptin Deficiency Or Dysfunction
Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicular size OMIM:614962
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Cryptorchidism, Polymicrogyri... OMIM:604317
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Simplified gyral pattern OMIM:613402
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Simplified gyral pattern, Abnormal ... OMIM:619470
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal repetitive m... ORPHA:228402
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
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
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71526
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia ORPHA:599373
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Impaired social interactions,... OMIM:612469
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Failure to thrive OMIM:618362
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Inability to walk, Cryptorchidism, Obesity, Hypogonadi... OMIM:615547
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Temple Syndrome
Small for gestational age, Cryptorchidism, Polyphagia, Obesity ORPHA:254516
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia ORPHA:382
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Pachygyria, Slender build, Polymicrogyria ORPHA:251383
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Emotional l... ORPHA:179494
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Pachygyria, Slender build, Polymicrogyria OMIM:300831
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Bardet-Biedl Syndrome 9
Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Hsd10 Disease
Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior ORPHA:391417
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Irregular menstruation, Obesity, Polyphagia OMIM:616831
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Obesity, Compulsive behaviors ORPHA:444002
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Agitation, Polyphagia, Large for gestational age ORPHA:324575
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... ORPHA:72
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi... OMIM:619738
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276556
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, Steppage gait, Attentio... ORPHA:98818
Man1B1-Cdg
Resting tremor, Broad-based gait, Periventricular heterotopia, Truncal obesity, Polyphagia ORPHA:397941
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Failure to thrive OMIM:274270
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276575
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Irritability, Emotional lability, Polydipsia, Failure to thrive, Polyphagia ORPHA:525731
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276580
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Hypergonadotropic hypogonadism OMIM:606407
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Simplified gyral pattern, Gait ataxia... OMIM:300354
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Polyphagia,... ORPHA:66628
Trisomy 18P
Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Failure to thrive, Crouch gait, Gait ataxia OMIM:620145
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... OMIM:614104
Cebalid Syndrome
Polymicrogyria, Polyphagia OMIM:618774
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, A... ORPHA:449291
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... OMIM:620242
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Aggressive behavior OMIM:615286
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Periventricular heterotopia, Self-biting, Recurrent ... OMIM:300624
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, Buli... ORPHA:98793
Insulinoma
Tremor, Polyphagia, Increased body weight ORPHA:97279
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, Buli... ORPHA:177904
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, Buli... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, Perisylvian po... ORPHA:98754
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Abdominal obesity, Hy... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Impaired social interactions, Att... ORPHA:1942
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Irritability, Abnormal repet... ORPHA:391307
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal obesity, Hypogo... ORPHA:398069
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Failure to thrive, Aggressive behavior ORPHA:369939
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Impaired so... OMIM:610042
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Depression, Male sexual dysfunction, Agitation, Gait imbalanc... ORPHA:2828
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Impaired social int... OMIM:156200
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Abnormality of neuronal migration, Obesity, Low frust... ORPHA:163681
48,Xxxy Syndrome
Tremor, Cryptorchidism, Obesity, Irritability, Azoospermia, Hypogonadism, Infertility, Attention ... ORPHA:96263
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait, Aggressive behavior OMIM:300958
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Impai... ORPHA:8
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Prader-Willi Syndrome
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary ame... OMIM:176270
Prader-Willi Syndrome
Cryptorchidism, Perisylvian polymicrogyria, Primary amenorrhea, Abdominal obesity, Hypogonadism, ... ORPHA:739
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Cryptorchidism, Unsteady gait, Polyphagia, Sim... ORPHA:96121
Gangliocytoma
Impotence, Decreased female libido, Polyphagia, Amenorrhea ORPHA:251937
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Broad-based gait, Aggressive behavior, Cryptorchidism, E... ORPHA:251028
Infantile Neuroaxonal Dystrophy
Hyperactivity, Dystonia, Ataxia, Impulsivity, Unsteady gait, Gait disturbance, Choking episodes, ... ORPHA:35069
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Inappropriate l... OMIM:103050
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive OMIM:619239
Citrullinemia Type Ii
Restlessness, Hyperactivity, Abnormal eating behavior, Aggressive behavior, Tremor, Delayed menar... ORPHA:247585
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emot... OMIM:610217
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Obesity, Depression, Irritability, Oligomenorrhea, Laryngeal dyst... ORPHA:79444
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Agitation, Ataxia, Disinhibition ORPHA:1020
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Truncal obesity, Abnormal temper ... ORPHA:404448
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Failure to thrive, Irritability OMIM:617864
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Impotence, Disinhibition, Gait disturbance, Attention deficit... ORPHA:43
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Bruxism, Obesity, Irritability, Tr... OMIM:615873
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity ORPHA:251004
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Progressive gait ataxia, Paroxysma... OMIM:105830
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
X-Linked Acrogigantism
Hypogonadism, Increased body mass index, Polyphagia, Ataxia ORPHA:300373
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Obesity, Depression, Choreoathetosis, Irritability, Oligomenorrhe... ORPHA:79443
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Impaired social interactions, Comp... OMIM:309520
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... ORPHA:309256
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetria, Depression, Gait di... ORPHA:845
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia, Simplified gyral pattern OMIM:620047
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Obesity, Depression, Self-injurious behavior, Compulsive behaviors, Impaired... ORPHA:293987
Craniopharyngioma
Hypogonadism, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:54595
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Blep... OMIM:234200
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Polyphagia OMIM:277590
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavior, Intention tremor ORPHA:309263
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-mutilation of t... ORPHA:2388
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Abnormal cortical gyration, Dystonia, Impaired oropharyngeal swallo... ORPHA:521426
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Metachromatic Leukodystrophy, Adult Form
Depression, Progressive gait ataxia, Difficulty walking, Dystonia, Emotional lability, Abnormal s... ORPHA:309271
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Fg Syndrome Type 1
Broad-based gait, Cryptorchidism, Compulsive behaviors, Attention deficit hyperactivity disorder,... ORPHA:93932
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive, Abnormal cortical gyration, Dysphagia OMIM:617527
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Niemann-Pick Disease Type C
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Progres... ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Abnormal cortical gyration, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive... ORPHA:314647
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Com... ORPHA:177907
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Simplified gyral pattern, Irritability, Failure to thrive OMIM:615574
1P36 Deletion Syndrome
Cryptorchidism, Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Hypogonadism, Dys... ORPHA:1606
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response, Dysgyria OMIM:620327
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Cryptorchidism, Polymicrogyria, Obesity, Impaired social interactions, Dysph... OMIM:607872
Mend Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Abnormal social behavior, Failure to thrive ORPHA:401973
Sandhoff Disease
Exaggerated startle response, Ataxia, Impotence OMIM:268800
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Decreased fertility, Decreased fertility in females OMIM:269700
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis OMIM:608800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Decreased fertility in females OMIM:608594
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Histidinemia
Hyperactivity ORPHA:2157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agyria, Lissencephaly, Pachygyria, Polymicrogyria, Type II lissence... OMIM:253800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353277
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Attention... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Attention... ORPHA:363958
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Cryptorchidism, Hydrocele testis, Chordee, Attention deficit hypera... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Cryptorchidism, Dysp... ORPHA:438213
Williams Syndrome
Ataxia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Obes... ORPHA:904
Alström Syndrome
Ataxia, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular menstruation, Obesity, Hyp... 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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