banner
Genes Phenotypes Help, News, Blog

Gene: Slc9a6 MGI:2443511

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 9 (sodium/hydrogen exchanger), member 6
Synonyms:
NHE6,  6430520C02Rik

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 Slc9a6 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 Slc9a6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Christianson Syndrome
Cerebellar atrophy, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Aplasia/Hypop... ORPHA:85278
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Truncal ataxia, Hyperkinetic... OMIM:300243

The table below shows human diseases predicted to be associated to Slc9a6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 2
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Conf... OMIM:607136
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Dementia, Gliosis, Neuronal loss... OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... OMIM:618369
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Astrocytosis... OMIM:600795
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Dement... ORPHA:204
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Spasticity, Frontal lobe d... OMIM:221770
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Apraxia, Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Frontal lo... OMIM:221820
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, Gait ataxia, Choreoathetosis, ... ORPHA:225154
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... ORPHA:157941
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Cer... OMIM:225753
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Abnormal circulating enzyme concentration or a... ORPHA:168486
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Gliosis, Spas... OMIM:615095
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Amyotrophic lateral sclerosis, Athetosis, Gliosis OMIM:300857
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:109150
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of ante... OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Frontotempor... OMIM:105550
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Dementia, Gliosis, Neuronal loss in central nervous ... OMIM:604218
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... ORPHA:2382
Pick Disease Of Brain
Frontotemporal dementia, Abnormal repetitive mannerisms, Gliosis, Disinhibition, Inappropriate la... OMIM:172700
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Parkinsonism, Frontotemporal dementia, Repetitive compulsive behavior, Hypersexuality, L... OMIM:607485
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Cognitive impairment, Astrocytosis OMIM:607341
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp... OMIM:612936
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Cerebellar gliosis, Partial agenesis of the corpus callosum, Cerebral ... ORPHA:79243
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Attention deficit hype... OMIM:605361
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Progressive neurologic deterioration, Corpus callosum atrophy, Abnormal cerebellum morpho... OMIM:169500
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Frontotemporal dementia, Temp... ORPHA:100070
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Gliosis, Confusion OMIM:613002
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai... OMIM:616230
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Hypoplasia of the ventral pons, Degener... OMIM:607596
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... OMIM:256731
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Gliosis, Gait disturbance, Upper limb spasticity, Abnormal repeti... ORPHA:457240
Developmental And Epileptic Encephalopathy 14
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... OMIM:614959
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... OMIM:604213
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Dementia, N... OMIM:615889
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Athetosis, S... ORPHA:382
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... OMIM:603218
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extra... OMIM:277470
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Hyperkinetic movements, Gli... OMIM:300957
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Dementia, Gliosis, Fal... ORPHA:683
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Progressive neurologic deterioration, Neurodegenera... OMIM:214150
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Hepatosplenomegaly, Clu... ORPHA:845
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... ORPHA:280210
Hemimegalencephaly
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology ORPHA:99802
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Ataxia, Paralysis, Jaun... OMIM:203700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in central nervous syst... OMIM:616239
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Gliosis, Gait disturbance, Memory impairment, Spasticity OMIM:603896
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ... OMIM:617145
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Later... OMIM:619847
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Gliosis, Gait disturbance, Shuffl... OMIM:168601
Leigh Syndrome
Progressive neurologic deterioration, Chorea, Choreoathetosis, Gliosis, Neutropenia, Agenesis of ... ORPHA:506
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Portal hypertension, Rigidity, Splenomegaly, Jaundice, Astrocytosi... ORPHA:309854
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Cerebellar atrophy, Hyperactivity, Ataxia, Impul... ORPHA:35069
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Cerebral atrophy, Gliosis, Myoclo... OMIM:614946
Cerebrotendinous Xanthomatosis
Axonal degeneration, Progressive psychomotor deterioration, Abnormal pyramidal sign, Gliosis, Abn... ORPHA:909
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, G... OMIM:617193
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Bradykinesia, Dementia, Gliosis, S... ORPHA:411602
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, Abnormal pyram... OMIM:248500
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... OMIM:604377
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Lissencephaly, X-Linked, 2
Agenesis of corpus callosum, Spasticity, Gliosis OMIM:300215
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Aggressive behavior, Dementia, Gliosis, Memory impairment OMIM:606688
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Dysphagia OMIM:201550
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... OMIM:616505
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in central ... OMIM:614498
Leigh Syndrome
Spasticity, Ataxia, Gliosis OMIM:256000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Splenomegaly, Babinski sign, Lower limb hypertonia, ... OMIM:301072
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Compu... OMIM:619405
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Pontocerebellar atrophy, Cognitive impairment, Dysphagia ORPHA:258
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Ataxia, Reduction of oligodendroglia, Tremor, Inabil... OMIM:312080
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Spastic tetraplegia, Hypochromic microcytic anemia, Gl... ORPHA:3240
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leuko... OMIM:615673
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait at... OMIM:618321
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,... OMIM:277460
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuolar degeneration, ... OMIM:609454
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Progressive neurologic deterioration, Splenomegaly, Unsteady gait,... ORPHA:90324
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Lateral ventricle dilatati... OMIM:617751
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spasticity ORPHA:88619
Kleefstra Syndrome Due To A Point Mutation
Self-injurious behavior, Gliosis, Cerebellar hypoplasia ORPHA:261652
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysm... OMIM:610217
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasi... OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Christianson Syndrome
Cerebellar atrophy, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Aplasia/Hypop... ORPHA:85278
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Elevated hepatic transaminase, Inability to walk, Chorea, Splenomegaly, Oculo... ORPHA:404454
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Inability to walk, Gliosis, Decreased liver function, Dysphagia, I... ORPHA:26791
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Spastic tetraparesis, Sulfi... OMIM:252150
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cerebral atrophy, Elevated circulating... OMIM:124000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Abnormal pons morphology, Lateral ventricle dilatation, Gliosis, Cerebella... OMIM:300868
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... OMIM:615960
Cockayne Syndrome
Cerebellar atrophy, Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Action tr... ORPHA:191
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Restlessness, Pain insensitivity, Involuntary movements, Oral-phar... OMIM:615273
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Molybdenum cofactor deficiency, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Elevated hepatic transaminase, Corpus callosum atrophy, Splenomegaly, Gliosis OMIM:261515
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Ankle clonus, Gliosis, Difficulty walking OMIM:618222
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Tremor, Partial agenesis of the corpus callosum, Dysmetria,... OMIM:220111
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Lateral ventricle dilatation, ... OMIM:615873
47,Xyy Syndrome
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Dysgenesis of the cerebella... ORPHA:8
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Gliosis OMIM:231680
Gabriele-De Vries Syndrome
Waddling gait, Oral-pharyngeal dysphagia, Tremor, Gliosis, Attention deficit hyperactivity disord... ORPHA:506358
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Aggressive behavior, Hypertonia, Gliosis, Gait disturbance, Dysphagia, ... ORPHA:268261
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Truncal ataxia, Hyperkinetic... OMIM:300243
Diets-Jongmans Syndrome
Gliosis, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Agenesis of co... OMIM:613150
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Spastic tetra... ORPHA:98889
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374

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 Slc9a6

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 Slc9a6.

No publications found that use IMPC mice or data for Slc9a6.

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
Slc9a6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc9a6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc9a6tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter