Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SLIT and NTRK-like family, member 6
Synonyms:
4832410J21Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Slitrk6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slitrk6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200

The table below shows human diseases predicted to be associated to Slitrk6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Sensorineur... ORPHA:504476
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Vestibular dysfunction OMIM:616042
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Usher Syndrome, Type Ie
Vestibular areflexia, Congenital sensorineural hearing impairment OMIM:602097
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Gait ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Ataxia OMIM:614575
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Abnormal vestibulo-ocular reflex OMIM:183086
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Ataxia, Decreased body weight ORPHA:99852
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Abnormal cranial nerve morphology, Akinesia, Abnormal vestibulo-... ORPHA:247234
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Decreased body weight, Hyperactivity OMIM:608747
Immunodeficiency 8
Hyperactivity OMIM:615401
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Decreased motor nerve conduction velocity, Limb ataxia,... ORPHA:95
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Nystagmus 4, Congenital, Autosomal Dominant
Abnormal vestibulo-ocular reflex OMIM:193003
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Hyperactivity OMIM:300928
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Tremor, Vestibular dysfunc... ORPHA:52368
Usher Syndrome
Vestibular areflexia, Vestibular dysfunction, Ataxia, Sensorineural hearing impairment, Tinnitus ORPHA:886
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Intellectual Developmental Disorder, X-Linked 107
Macrotia, Hyperactivity OMIM:301013
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hyperactivity OMIM:615924
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Small for gestational age, Failure... OMIM:609425
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Sotos Syndrome 3
Hyperactivity OMIM:617169
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Hyperprolinemia, Type I
EEG abnormality, Ataxia, Hyperactivity OMIM:239500
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Obesity, Hyperactivity, Focal EEG discharges with secondary generalizatio... ORPHA:3077
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, Hyperact... ORPHA:248111
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Sensorineural hearing impairment, Decreased body weight, Hyperactivity OMIM:618342
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Distal Monosomy 3P
Low-set, posteriorly rotated ears, Hearing impairment, Abnormal vestibulo-ocular reflex ORPHA:1620
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Ata... ORPHA:228360
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Ataxia, Hyperactivity OMIM:612716
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity ORPHA:2382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Low-set ears, EEG abnormality, Hyperactivity OMIM:618718
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Hyperactivity OMIM:615541
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hypsarrhythmia, EEG with focal epileptiform discharges, Multifocal epileptiform dischar... ORPHA:88616
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... OMIM:611584
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity ORPHA:100973
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Obesity, EEG abnormality, Hyperactivity, Broad-based gait ORPHA:411515
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Gait ataxia, Interictal EEG abnormality, EEG with temporal focal s... ORPHA:98818
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Mental Retardation, Autosomal Recessive 61
Low-set ears, Posteriorly rotated ears, EEG abnormality, Hyperactivity OMIM:617773
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Failure to thrive, Hyperactivity OMIM:619239
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Myoclonic-Astatic Epilepsy
Tremor, Ataxia, Interictal epileptiform activity, EEG with polyspike wave complexes, EEG with gen... ORPHA:1942
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... OMIM:609136
Rasmussen Subacute Encephalitis
Inability to walk, EEG with focal epileptiform discharges, Interictal epileptiform activity, EEG ... ORPHA:1929
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Failure to thrive, Hyperactivity ORPHA:369939
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, ... ORPHA:99027
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Bilateral sensorineural hearing impairment, Congenital sensorineural hearing impairment, Truncal ... ORPHA:73272
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... ORPHA:87
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Ck Syndrome
Slender build, Posteriorly rotated ears, Hyperactivity ORPHA:251383
Intellectual Developmental Disorder, X-Linked 30
Macrotia, Hyperactivity OMIM:300558
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Head tremor, Limb ataxia, Unsteady gait, Sensorineural hearing im... ORPHA:101085
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Ataxia, Failure to thrive, Hyperactivity OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hearing impairment, Decreased body weight, Hyperactivity OMIM:300958
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Low-set ears, Posteriorly rotated ears, Hearing impairment, Hyp... OMIM:618027
Ck Syndrome
Slender build, Posteriorly rotated ears, Hyperactivity OMIM:300831
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Unsteady gait, Failure to thrive, Hyperactivity OMIM:617865
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Failure to thrive, Hyperactivity OMIM:615286
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response, Ataxia OMIM:618598
Mental Retardation, Autosomal Dominant 7
Thickened helices, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, Failure to thriv... OMIM:614104
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Ataxia, Hyperactivity OMIM:271980
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Small for gestational age, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:352490
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, EEG abnormality, Hyperactivity ORPHA:500180
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity OMIM:275000
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Obesity, EEG abnormality, EEG with abnormally slow frequencies, Hyperactivity, Ga... ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Tremor, Gait ataxia, Abnormality of the pinna, Hyperactivity OMIM:300354
Hyperphosphatasia With Mental Retardation Syndrome 6
EEG with multifocal slow activity, Thickened helices, Large earlobe, Hyperactivity OMIM:616809
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
X-Linked Creatine Transporter Deficiency
Dystonia, Aganglionic megacolon, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
13Q12.3 Microdeletion Syndrome
Chronic otitis media, Hearing impairment, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Gand Syndrome
Hyperactivity OMIM:615074
Potocki-Lupski Syndrome
Hearing impairment, EEG abnormality, Small for gestational age, Failure to thrive, Hyperactivity OMIM:610883
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss, Hyperactivity ORPHA:99819
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the outer ear, Hearing impairment, EE... OMIM:182290
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with photo... ORPHA:168491
Cockayne Syndrome Type 1
Tremor, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Absent brains... ORPHA:90321
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia OMIM:619260
Distal Monosomy 10Q
Cochlear malformation, Abnormality of the outer ear, Morphological abnormality of the vestibule o... ORPHA:96148
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Failure to thrive, Macrotia OMIM:615574
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Obesity OMIM:600430
Angelman Syndrome
Progressive gait ataxia, Obesity, Limb tremor, EEG abnormality, Hyperactivity, Broad-based gait OMIM:105830
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Oculogyric crisis, Torticollis, Exaggerated startle respons... OMIM:608643
Fragile X Syndrome
Macrotia, Hyperactivity OMIM:300624
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials, Small for gestational age, Failure to th... OMIM:193700
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Unsteady gait, ... ORPHA:35069
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Unsteady gait, EEG with focal spikes, Hyperactivity ORPHA:485350
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Posteriorly rotated ears, Microtia, Hyperactivity OMIM:618089
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Intention tremor, Bradykinesia, Dysmetria, Hyperactivi... OMIM:610217
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Opisthotonus, Hearing impairment, Cachexia, Failu... ORPHA:206436
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
X-Linked Intellectual Disability, Cabezas Type
Tremor, Obesity, EEG abnormality, Cachexia, Hyperactivity, Abnormality of earlobe, Broad-based gait ORPHA:85293
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Noonan Syndrome
Low-set, posteriorly rotated ears, Thickened helices, Sensorineural hearing impairment, Aplasia o... ORPHA:648
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
Charge Syndrome
Abnormal cranial nerve morphology, Hypoplasia of the semicircular canal, Overfolded helix, Low-se... ORPHA:138
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, External ear malformation, Exaggerated startle response, Broad-based gait ORPHA:438216
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Ataxia, Hyperactivity OMIM:610042
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Resting tremor, Ataxia, Abnormal motor evoked potentials, Abnormal au... ORPHA:909
Cri-Du-Chat Syndrome
Difficulty walking, Abnormality of the pinna, Low-set ears, Hearing impairment, Stenosis of the e... OMIM:123450
Hyperlysinemia
Tremor, EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix, Opisthot... ORPHA:2203
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity OMIM:614613
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Hypsarrhythmia, Low-set, posteriorly rotated ears, Exaggerated startle response, Sensor... ORPHA:521426
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Posteriorly rotated ears, Low-set ears, Hyperactivity, Obesity OMIM:618430
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Hyperactivity ORPHA:530983
Mend Syndrome
Low-set ears, Hyperactivity OMIM:300960
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macrotia, Ataxia, Low-set ears, Multifocal epileptiform discharges, Hearing impairment, EEG abnor... ORPHA:369891
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Sensorineural hearing impairment, Small for gestational age, Protruding ear, Hypera... OMIM:609625
X-Linked Adrenoleukodystrophy
Gait disturbance, Progressive hearing impairment, Attention deficit hyperactivity disorder, Hyper... ORPHA:43
Cockayne Syndrome B
Tremor, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, Sensorineural hear... OMIM:133540
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Low-set ears, Opisthotonus, Hyperactivity OMIM:103050
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Laryngeal dystonia, Hearing impairment, Ex... ORPHA:845
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity OMIM:252920
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Hyperactivity ORPHA:401973
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Posteriorly rotated ears, Ataxia, Hyperactivity OMIM:601853
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Macrotia, Hyperactivity ORPHA:391307
16P12.1P12.3 Triplication Syndrome
Large earlobe, Low-set ears, Failure to thrive, Hyperactivity, Attention deficit hyperactivity di... ORPHA:485405
Intellectual Disability, Birk-Barel Type
Protruding ear, Hyperactivity ORPHA:166108
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Low-set ears, Posteriorly rotated ears, Ab... ORPHA:171929
Cockayne Syndrome A
Tremor, Gait disturbance, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, ... OMIM:216400
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Obesity, EEG abnormality, Hyperactivity, Optic atrophy, Optic ... ORPHA:72
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Low-set ears, External ear malformation, Sensorineural hearing imp... ORPHA:254346
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Ataxia OMIM:268800
Early Infantile Epileptic Encephalopathy
Dystonia, Tremor, Episodic ataxia, EEG with spike-wave complexes, Uni- and bilateral multifocal e... ORPHA:1934
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Hyperactivity ORPHA:760
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set, posteriorly rotated ears, Obesity OMIM:615873
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Dysmetria, H... ORPHA:139396
Pediatric-Onset Graves Disease
Tremor, Failure to thrive, Hyperactivity ORPHA:525731
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hyperactivity OMIM:252930
Citrullinemia Type Ii
Decreased body mass index, Lethargy, Tremor, Hyperactivity ORPHA:247585
Brain-Lung-Thyroid Syndrome
Dystonia, Intention tremor, Ataxia, Sensorineural hearing impairment, Falls, Failure to thrive, H... ORPHA:209905
Mucopolysaccharidosis, Type Iiid
Low-set ears, Hearing impairment, Hyperactivity OMIM:252940
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Macrotia, Hyperactivity OMIM:300486
Brooks-Wisniewski-Brown syndrome
Low-set ears, Cupped ear, Posteriorly rotated ears, Protruding ear, Small for gestational age, EE... OMIM:300612
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Large for gestational age, Hyperactivity ORPHA:457485
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stankiewicz-Isidor Syndrome
Low-set ears, Hearing impairment, Abnormality of the optic disc, Hyperactivity OMIM:617516
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity,... OMIM:234200
Intellectual Disability-Strabismus Syndrome
Macrotia, Gait disturbance, Recurrent otitis media, Low-set ears, Hearing impairment, Failure to ... ORPHA:363528
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
16P11.2P12.2 Microdeletion Syndrome
Chronic otitis media, Abnormality of the pinna, Low-set ears, Hearing impairment, Hyperactivity ORPHA:261211
Bone Marrow Failure Syndrome 3
Cupped ear, Hearing impairment, Failure to thrive, Hyperactivity OMIM:617052
47,Xyy Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Recurrent otitis media, Macrotia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Posteriorly rotated ears, Exaggerated startle response, Failure to thrive, Optic at... OMIM:617527
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Abnormality of the pinna, Macrotia, Hyperactivity OMIM:618505
Chromosome 13Q33-Q34 Deletion Syndrome
Posteriorly rotated ears, Hearing impairment, Small for gestational age, Hyperactivity OMIM:619148
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Exaggerated startle response, Optic atrophy OMIM:617301
White-Sutton Syndrome
Abnormality of the outer ear, Posteriorly rotated ears, Sensorineural hearing impairment, EEG abn... ORPHA:468678
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Glass Syndrome
Low-set ears, Broad-based gait, Hyperactivity OMIM:612313
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Abnormally folded helix, Hyperactivity OMIM:309520
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Ataxia, Low-set ears, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear OMIM:614756
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Failure to thrive, Hyperactivity ORPHA:239
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Failure to thrive in infancy, Low-set ears, Hyperactivity, Microtia ORPHA:261323
7Q11.23 Microduplication Syndrome
Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Chronic otitis media, Abnorma... ORPHA:96121
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Exaggerated startle response, Macrotia ORPHA:79255
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Low-set ears, Posteriorly rotated ears, Failure to thrive, Hyperactivity, Large for gestational a... OMIM:607721
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Conductive hearing impairment, Gait di... ORPHA:581
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Blepharospasm, Head titubation, Weight loss, Br... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Dyrk1A-Related Intellectual Disability Syndrome
Macrotia, Gait disturbance, Protruding ear, Small for gestational age, Failure to thrive, Hyperac... ORPHA:464306
Monosomy 9Q22.3
Low-set ears, Thickened ears, Large for gestational age, Hyperactivity ORPHA:77301
Distal Trisomy 17Q
Low-set, posteriorly rotated ears, Protruding ear, Bilateral sensorineural hearing impairment, Hy... ORPHA:3379
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Protruding ear, Hypsarrhythmia, Hyperactivity ORPHA:447997
Nijmegen Breakage Syndrome
Macrotia, Otitis media, Hyperactivity OMIM:251260
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Cupped ear, Posteriorly rotated ears, Hearing impairment, Small for gestational age... OMIM:309590
Maternal Phenylketonuria
Hypoplastic helices, Hyperactivity ORPHA:2209
Monosomy 22Q13.3
Hyperactivity, Hearing impairment, Macrotia, Obesity ORPHA:48652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Exaggerated startle response, Optic disc pallor, Broad-based gait ORPHA:438213
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Failure to thri... ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Difficulty walking, Hyperactivity, Abnormal... ORPHA:642
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, Hyperactivity, Optic at... OMIM:309580
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200

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 Slitrk6

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 Slitrk6.

No publications found that use IMPC mice or data for Slitrk6.

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MGI Allele Allele Type Produced
Slitrk6tm412403(L1L2_Bact_P) Targeting vectors

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