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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
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, Decreased female libido, No social interaction, Un... ORPHA:96369
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Gray matter heterotopia, Aggressive behavior, Simplified gyral pattern, Lissenceph... OMIM:604317
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Obesity, Aggressive behavior, Polyphagia ORPHA:329249
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Inability to walk, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Huntington Disease
Suicidal ideation, Dystonia, Choking episodes, Disinhibition, Anxiety, Abnormal libido, Oral-phar... ORPHA:399
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Pick Disease Of Brain
Disinhibition, Emotional blunting, Inappropriate laughter, Apathy, Irritability, Polyphagia, Dimi... OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Obesity, Ataxia, Inappropriate laughter, Polyphagia, Broad-based gait ORPHA:411515
Frontotemporal Dementia
Disinhibition, Inappropriate laughter, Apathy, Irritability, Inappropriate sexual behavior, Polyp... OMIM:600274
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 8
Hyperactivity OMIM:615401
Graves Disease, Susceptibility To, 1
Polyphagia, Irritability, Hyperactivity, Weight loss OMIM:275000
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Poor eye contact, Tremor OMIM:300983
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity... ORPHA:3077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Simplified gyral pattern, Broad-based gait, Tremor OMIM:619470
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Poor eye contact OMIM:613886
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia, Failure to t... OMIM:609425
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Dystonia 12
Dystonia, Anxiety, Unsteady gait, Emotional lability, Dysphagia, Torticollis, Depression, Tremor OMIM:128235
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Juvenile Huntington Disease
Dystonia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Depres... ORPHA:248111
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity, Ataxia OMIM:613402
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Obesity, Polyphagia, Abnormal eating behavior, Hypogonadism OMIM:614962
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Anxiety, Hyperactivity, Aggressive behavior, Abnormal eating behavior, ... ORPHA:101039
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Hyperactivity, Aggressive behavior OMIM:618362
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Leptin Receptor Deficiency
Obesity, Aggressive behavior, Abnormal eating behavior, Polyphagia, Hypergonadotropic hypogonadism OMIM:614963
Glycine Encephalopathy
Irritability, Impulsivity, Hyperactivity, Aggressive behavior OMIM:605899
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Self-mutilation, Aggressive behavior OMIM:616521
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Bipolar affective disorder OMIM:615538
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, Polyphagia ORPHA:228402
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Oculogyric crisis, Abnormal social behavior, Anxiety, Leg dystoni... ORPHA:255
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Attention deficit hyperactivity dis... ORPHA:444002
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia OMIM:248100
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Hyperactivity, Ataxia, Aggressive behavior, Tremor OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Irritability, Pachygyria, Polymicrogyria ORPHA:251383
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Anxiety, Obesity, Hyperactivity, Inability to walk, Aggr... ORPHA:72
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Lennox-Gastaut Syndrome
Falls, Hyperactivity, Personality disorder, Aggressive behavior ORPHA:2382
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Irritability, Pachygyria, Polymicrogyria OMIM:300831
Luscan-Lumish Syndrome
Irregular menstruation, Anxiety, Obesity, Aggressive behavior, Shyness, Polyphagia OMIM:616831
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Inability to walk, Polyphagia, Impulsivity, Hypogonadism OMIM:615547
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:615924
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight, Aggressive behavior OMIM:618342
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Emotional lability, Gait ataxia, Depr... ORPHA:98818
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Inability to walk, Tremor OMIM:618718
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hyperactivity, Polymicrogyria, Depression, Impulsivity ORPHA:88616
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Broad-based gait ORPHA:171829
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Dysphagia, Impulsivity ORPHA:500180
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71526
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Polydipsia, Failure to thrive, Irritability, Polyphagia, Tremor ORPHA:525731
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Unsteady gait, Failure to thrive, Broad-based gait OMIM:617865
Man1B1-Cdg
Resting tremor, Periventricular heterotopia, Truncal obesity, Polyphagia, Broad-based gait ORPHA:397941
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Simplified gyral pattern, Gait ataxia, Abdominal... OMIM:300354
Hsd10 Disease
Abnormal social behavior, Ataxia, Dysphagia, Gait disturbance, Tremor ORPHA:391417
Stiff Person Spectrum Disorder
Anxiety, Emotional lability, Difficulty walking, Exaggerated startle response, Falls, Agoraphobia ORPHA:3198
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Obesity, Emotional lability, Polyphagia, Hypergonadotropic hypogonadism, Hypo... ORPHA:179494
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior, Unsteady gait,... ORPHA:228360
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Ataxia, Aggressive behavior OMIM:271980
Fragile X Syndrome
Periventricular heterotopia, Self-biting, Hyperactivity, Poor eye contact OMIM:300624
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Obesity, Truncal obesity, Polyphagia OMIM:615986
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior ORPHA:382
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity OMIM:274270
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Aggressive behavior OMIM:615286
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Insulinoma
Polyphagia, Anxiety, Increased body weight, Tremor ORPHA:97279
Myoclonic-Astatic Epilepsy
Impaired social interactions, Lack of peer relationships, Hyperactivity, Ataxia, Unsteady gait, A... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Small for gestational age, Failure to thrive in infancy, Hyperactivity, Ataxia, I... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Unsteady gait, Progressive ... ORPHA:485350
Temple Syndrome
Polyphagia, Obesity, Small for gestational age ORPHA:254516
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavio... ORPHA:449291
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Polyphagia, Small for gestational age ORPHA:324575
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior ORPHA:369939
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Hypergonadotropic hypogonadism OMIM:606407
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Hyperactivity, Inability to walk, Aggressive behavior, Inappropriat... OMIM:103050
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait, Aggressive behavior OMIM:300958
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Hyperactivity, Ataxia, Aggressive behavior OMIM:610042
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Obesity, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalance... ORPHA:98794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Hyperactivity, Obesity, Ataxia, Aggressive behavior, Poor eye contact,... ORPHA:163681
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Polyphagia ORPHA:276556
Prader-Willi Syndrome
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Failure to thrive in infancy, Sel... OMIM:176270
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia, Self-injurious behavior, Ataxia, Aggressive behavior OMIM:156200
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Low self esteem, Depression, Attention deficit hyperactivity d... ORPHA:64280
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Hemidystonia, Emotional lability, Irritability, Attention defic... ORPHA:1929
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Polyphagia ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Polyphagia ORPHA:276580
Cebalid Syndrome
Polyphagia, Polymicrogyria OMIM:618774
X-Linked Creatine Transporter Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Self-mutilation, Cachexia ORPHA:52503
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... ORPHA:98754
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... ORPHA:98793
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Infantile Neuroaxonal Dystrophy
Dystonia, Choking episodes, Hyperactivity, Ataxia, Unsteady gait, Emotional lability, Gait distur... ORPHA:35069
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
48,Xxxy Syndrome
Infertility, Abnormal social behavior, Azoospermia, Abnormal aggressive, impulsive or violent beh... ORPHA:96263
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity, Failure to thrive, Abdom... ORPHA:398079
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... ORPHA:177904
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... ORPHA:177901
7Q11.23 Microduplication Syndrome
Impaired social interactions, Dysmetria, Self-injurious behavior, Anxiety, Obesity, Hyperactivity... ORPHA:96121
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Obesity, Polyphagia, Hypergonadotropic hypogonadism, Hypoplasia of the ovary ORPHA:66628
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
X-Linked Adrenoleukodystrophy
Disinhibition, Hyperactivity, Aggressive behavior, Impotence, Inappropriate sexual behavior, Gait... ORPHA:43
Potocki-Lupski Syndrome
Small for gestational age, Hyperactivity, Oral-pharyngeal dysphagia, Poor eye contact, Failure to... OMIM:610883
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Polyphagia, Hypersexuality, Disinhibition OMIM:607485
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Emotional lability, Gait ataxia, Dysphagia,... OMIM:610217
Prader-Willi-Like Syndrome
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... ORPHA:398073
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-re... ORPHA:309246
Cri-Du-Chat Syndrome
Small for gestational age, Anxiety, Hyperactivity, Conspicuously happy disposition, Aggressive be... OMIM:123450
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Obesity, Aggressive behavior OMIM:600430
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Irritability, Hyperactivity, Aggressive behavior ORPHA:391307
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Failure to thrive, Abdominal obesity, Polyphagia, Hypogonadism, ... ORPHA:398069
47,Xyy Syndrome
Impaired social interactions, Azoospermia, Hyperactivity, Oligospermia, Male infertility, Impulsi... ORPHA:8
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Perisylvian polymicrogyria, Failure to thrive, Abdominal obesity... ORPHA:739
Adnp Syndrome
Impaired social interactions, Anxiety, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal ob... ORPHA:404448
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Self-mutilation, Hyperactivity ORPHA:412035
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Hypogonadism, Hyperactivity, Aggressive behavior ORPHA:3306
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Aggressive behavior, Emotional lability, Self-mutilation, Polyphagia, Broad-based gait ORPHA:251028
Pseudohypoparathyroidism Type 1C
Anxiety, Obesity, Laryngeal dystonia, Irritability, Polyphagia, Depression, Hypergonadotropic hyp... ORPHA:79444
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Irritability, Decreased body mass index, Delayed menarche, Ab... ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Tremor ORPHA:363400
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hyperactivity, Truncal obesity, Failure to thrive, Hypogonadism, Atten... ORPHA:73272
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Hyperactivity, Obesity, Ataxia, Aggressive behavior OMIM:618430
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Failure to thrive, Skin-picking, Attention deficit hyperacti... ORPHA:485405
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal social behavior ORPHA:530983
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Self-mutilation, Increased body weight OMIM:182290
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Anxiety, Hyperactivity, Ataxia, Aggressive behavior, P... OMIM:300912
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Emotional lability, Irritability, Lim... OMIM:608643
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder, Depression OMIM:601853
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior... ORPHA:168491
Secondary Short Bowel Syndrome
Polyphagia, Failure to thrive, Weight loss ORPHA:95427
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Obesity, Aggressive behavior, Broad-based gait, Cachexia, Hypogonadism, Tremor ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Low frustration tolerance, Hyperactivity, Aggressive behavior, Emot... OMIM:309520
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia, Tip... ORPHA:309256
Stiff-Person Syndrome
Opisthotonus, Anxiety, Exaggerated startle response, Depression, Agoraphobia OMIM:184850
Gangliocytoma
Polyphagia, Impotence, Decreased female libido, Amenorrhea ORPHA:251937
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Pseudohypoparathyroidism Type 1A
Anxiety, Obesity, Laryngeal dystonia, Irritability, Polyphagia, Depression, Hypergonadotropic hyp... ORPHA:79443
X-Linked Acrogigantism
Polyphagia, Hypogonadism, Ataxia, Increased body mass index ORPHA:300373
Angelman Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Obesity, Limb tremor, Progressive gait ataxia, Broa... OMIM:105830
Tay-Sachs Disease
Dysmetria, Dystonia, Anxiety, Inability to walk, Gait disturbance, Laryngeal dystonia, Dysphagia,... ORPHA:845
Myopathy With Extrapyramidal Signs
Dystonia, Perisylvian polymicrogyria, Hyperactivity, Ataxia, Difficulty walking, Tremor OMIM:615673
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Low frustration tolerance, Decreased body weight, Shuffling gait, Hyperactivity, Aggressive behav... OMIM:300534
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Abnormal social behavior, Intention tremor, Emotional lability, Progressive gait ataxia ORPHA:309263
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Weight loss, Small for gestational age ORPHA:424
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Low frustration tolerance, Self-mutilation, Inappropriate laughter ORPHA:363686
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
White-Sutton Syndrome
Self-injurious behavior, Anxiety, Obesity, Hyperactivity, Aggressive behavior, Irritability, Fail... OMIM:616364
Rauch-Steindl Syndrome
Anxiety, Failure to thrive, Hyperactivity, Aggressive behavior OMIM:619695
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Low frustration tolerance, Self-mutilation OMIM:300486
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity ORPHA:251004
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired social interactions, Self-injurious behavior, Polydipsia, Obesity, Aggressive behavior, ... ORPHA:293987
Metachromatic Leukodystrophy, Adult Form
Dystonia, Abnormal social behavior, Intention tremor, Emotional lability, Progressive gait ataxia... ORPHA:309271
Glass Syndrome
Happy demeanor, Broad-based gait, Hyperactivity, Aggressive behavior OMIM:612313
Chromosome 10Q26 Deletion Syndrome
Small for gestational age, Hyperactivity, Broad-based gait, Aggressive behavior OMIM:609625
Choreoacanthocytosis
Aggressive behavior, Apathy, Dysphagia, Hair-pulling, Depression, Socially inappropriate behavior... ORPHA:2388
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Male hypogonadism, Dysphagia, Gait disturban... ORPHA:139396
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Weight loss ORPHA:99819
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Niemann-Pick Disease Type C
Low frustration tolerance, Dystonia, Disinhibition, Axial dystonia, Intention tremor, Abnormal so... ORPHA:646
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Exaggerated startle response OMIM:272750
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Dysmetria, Abnormal social behavior, Intention tremor, Ataxia, Aggres... ORPHA:314647
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Brain-Lung-Thyroid Syndrome
Dystonia, Intention tremor, Hyperactivity, Ataxia, Failure to thrive, Abnormal eating behavior, F... ORPHA:209905
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Asparagine Synthetase Deficiency
Simplified gyral pattern, Failure to thrive, Exaggerated startle response OMIM:615574
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia, Disinhibition ORPHA:1020
Craniopharyngioma
Polyphagia, Hypogonadotropic hypogonadism, Obesity, Hypogonadism ORPHA:54595
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dysphagia OMIM:252930
Hyperlysinemia
Dysmetria, Opisthotonus, Hyperactivity, Failure to thrive, Dysphagia, Tip-toe gait, Tremor ORPHA:2203
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Hypogonadotropic hypogonadism, Abnormal social beha... ORPHA:177907
Wiedemann-Steiner Syndrome
Low frustration tolerance, Anxiety, Hyperactivity, Aggressive behavior, Failure to thrive, Dysphagia ORPHA:319182
Koolen-De Vries Syndrome
Small for gestational age, Anxiety, Hyperactivity, Conspicuously happy disposition, Gray matter h... OMIM:610443
1P36 Deletion Syndrome
Self-injurious behavior, Obesity, Failure to thrive, Dysphagia, Gait disturbance, Polyphagia, Hyp... ORPHA:1606
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Hyperactivity, Ataxia, Akinesia, Dysphagia, Gait disturbance, Depression... OMIM:234200
Argininemia
Irritability, Spastic gait, Hyperactivity OMIM:207800
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Impaired oropharyngeal swallow response, Dystonia, Failure to thrive,... ORPHA:521426
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait, Slender build ORPHA:93932
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Dystonia, Aggressive behavior, Depression, Impaired social interactions, Isomet... OMIM:619475
Sandhoff Disease
Impotence, Ataxia, Exaggerated startle response OMIM:268800
Early Infantile Epileptic Encephalopathy
Dystonia, Self-injurious behavior, Hyperactivity, Failure to thrive, Pachygyria, Episodic ataxia,... ORPHA:1934
Mend Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:401973
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Tuberous Sclerosis Complex
Abnormal social behavior, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, D... ORPHA:805
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Failure to thrive, Dysphagia, Exaggerated startle response OMIM:617527
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Chromosome 1P36 Deletion Syndrome, Distal
Impaired social interactions, Obesity, Aggressive behavior, Self-mutilation, Dysphagia, Pachygyri... OMIM:607872
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Dysphagia, Irritability ORPHA:447997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Lissencephaly, Pachygyria, Exaggerated startle response, Type II lissencephaly, Polymicro... OMIM:253800
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Polyphagia, Decreased fertility OMIM:269700
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Inability to walk, Abnormal soc... ORPHA:1675
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Self-injurious behavior, Hyperactivity, Obesity, Panic attack, Aggr... ORPHA:353281
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Polyphagia OMIM:608594
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hand tremor, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Gait ataxia, B... OMIM:614756
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Slender build, Abnormal social behavior, Anxiety, Inappropriate laught... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Slender build, Abnormal social behavior, Anxiety, Inappropriate laught... ORPHA:363958
Histidinemia
Hyperactivity ORPHA:2157
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Self-mutilation, Abnormal emotion/affect behavior, Dysphagia, Impulsi... ORPHA:642
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Dysphagia, Chordee, Exaggerated startle response OMIM:619522
Williams Syndrome
Hypogonadotropic hypogonadism, Dysmetria, Failure to thrive in infancy, Abnormal social behavior,... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Dysphagia, Exaggerated startle response, Broad-based gait ORPHA:438213
Alström Syndrome
Irregular menstruation, Obesity, Ataxia, Decreased fertility in males, Truncal obesity, Oligosper... 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.

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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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