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Gene: Slc9a9 MGI:2679732

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Gene Summary

Name:
solute carrier family 9 (sodium/hydrogen exchanger), member 9
Synonyms:
5730527A11Rik,  Nhe9

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Slc9a9em1(IMPC)J HOM Early adult 3.44×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Slc9a9 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 Slc9a9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, EEG abnormality, Impaired use of nonverbal behaviors, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, EEG abnormality, Impaired use of nonverbal behaviors, Stereotypy OMIM:300425
Autism
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... OMIM:608636
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Impaired social interactions, Stereotypy OMIM:606053
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality ORPHA:436151
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, EEG abnormality, Impaired use of nonverbal behaviors, Stereotypy OMIM:300495
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Hyperkinetic movements ORPHA:397933
Autism, Susceptibility To, 3
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... OMIM:608049
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Hypsarrhythmia, Stereotypy OMIM:617830
Hsd10 Disease
Rigidity, Choreoathetosis, Chronic lactic acidosis, Myoclonus, Tremor, Ataxia, Abnormal social be... ORPHA:391417
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Stereotypy OMIM:618709
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Tongue thrusting, Poor eye contact, Tremor, Stereotypical ... ORPHA:3095
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements, EEG abnormality OMIM:618218
Foxg1 Syndrome
Choreoathetosis, Myoclonus, Poor eye contact, Stereotypy, Pachygyria, Stereotypical hand wringing... ORPHA:561854
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform discharges, Hyp... ORPHA:88616
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia, EEG abnormality OMIM:619150
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Polymicrogyria, Spastic tetraplegia, Stereotypy OMIM:615282
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Shyness, Spastic dysarthria, Stereotypy, Spasticity, Progressive spastic paraplegia ORPHA:280763
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Stereotypy OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Stereotypy OMIM:617393
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Stereotypy OMIM:616341
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Hypsarrhythmia, Spasticity ORPHA:500545
Trichotillomania
Hair-pulling OMIM:613229
Dopa-Responsive Dystonia
Rigidity, Poor coordination, Abnormality of extrapyramidal motor function, Fatigable weakness, Tr... ORPHA:255
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Cdkl5-Deficiency Disorder
Multifocal epileptiform discharges, Stereotypical hand wringing, Poor eye contact ORPHA:505652
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Simplified gyral pattern, Stereotypy OMIM:619470
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Poor eye contact, Stereotypy, Ataxia, Spasticity, Limb ataxia OMIM:617695
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Hypsarrhythmia, Poor eye contact, Stereotypy, Multifocal epileptiform discharges ORPHA:411986
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with occipital epileptiform discharges, Poor eye contact, Hypsarrhythmia, Stereotypy, Ataxia,... OMIM:619428
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing, EEG abnormality OMIM:618760
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Multifocal epileptiform discharges, Ataxia, Hyper... OMIM:619317
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Ataxia, EEG abnormality, Spasticity, Impaired social interactions OMIM:610042
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Syngap1-Related Developmental And Epileptic Encephalopathy
Poor coordination, Tremor, Ataxia, Impaired social interactions, Recurrent hand flapping ORPHA:544254
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping ORPHA:100973
Rett Syndrome, Congenital Variant
Athetosis, Chorea, Tongue thrusting, Poor eye contact, Simplified gyral pattern, Stereotypy, Pach... OMIM:613454
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Cerebral palsy, Interictal epileptiform activity, EEG with gen... ORPHA:163681
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Poor eye contact ORPHA:444002
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Stereotypy OMIM:613670
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, EEG abnormality, Spasticity, Stereotypy OMIM:618718
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Stereotypy OMIM:609425
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Upper motor neuron dysfunction, Stereotypy ORPHA:530983
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Childhood Disintegrative Disorder
Impaired social interactions, Stereotypy ORPHA:168782
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, EEG with continuous slo... ORPHA:275864
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity ORPHA:352490
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Intellectual Developmental Disorder, Autosomal Recessive 39
Stereotypy OMIM:615541
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Poor eye contact, Spasticity, Stereotypy OMIM:617807
Potocki-Lupski Syndrome
EEG abnormality, Poor eye contact, Stereotypy OMIM:610883
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with series of focal spikes, EEG with photoparoxysmal response, Myoclonus, Cortical myoclonus... ORPHA:168491
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia OMIM:618917
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Poor fine motor coordination, ... ORPHA:79264
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Stereotypy OMIM:612069
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with series of focal spikes, Choreoathetosis, Chorea, Poor eye contact, Stereotypy, Repetitiv... ORPHA:522077
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Oculomotor apraxia, Hypertonia, Ataxia, Apraxia, Abnormal social behavior, Parkinsonism ORPHA:1020
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, EEG abnormality OMIM:617268
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Babinski sign, Frequent falls, Progressive gait ataxia, Decreased nerve conduction ve... ORPHA:309263
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Myoclonus, Rigidity, Stereotypy OMIM:600795
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, Hypertonia, Hypsarrhythmia OMIM:618916
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Delayed social development, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomo... ORPHA:300570
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Babinski sign, Frequent falls, Progressive gait ataxia, Decreased nerve conduction ve... ORPHA:309256
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Poor eye contact, Stereotypy, Hypsarrhythmia, Stereotypical body rocking, ... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Poor eye contact, Stereotypy, Re... OMIM:300260
Childhood Absence Epilepsy
Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz), Limb myoclonus, Punding ORPHA:64280
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Poor eye contact, Stereotypy, Recurrent hand flapping, Impaired social interactions ORPHA:449291
Developmental And Epileptic Encephalopathy 2
Myoclonus, Hypsarrhythmia, Poor eye contact, EEG with generalized slow activity, Stereotypy OMIM:300672
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Babinski sign, Frequent falls, Chorea, Progressive gait ataxia, Decreased nerve condu... ORPHA:309271
Christianson Syndrome
Gait ataxia, Truncal ataxia, Stereotypy ORPHA:85278
Autosomal Dominant Non-Syndromic Intellectual Disability
Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Bilateral generalized polymicrogyria ORPHA:178469
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Limb hypertonia, Poor eye contact, Hypsarrhythmia, Stereotypy,... ORPHA:457351
Radio-Tartaglia Syndrome
Poor eye contact, Stereotypy, Tremor, Ataxia, Gray matter heterotopia OMIM:619312
Rett Syndrome
Limb apraxia, Increased serum lactate, Bradykinesia, Stereotypy, Stereotypical hand wringing, EEG... ORPHA:778
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity ORPHA:208447
Snijders Blok-Campeau Syndrome
Speech apraxia, Stereotypy OMIM:618205
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Stereotypy OMIM:619293
Pick Disease Of Brain
Stereotypy OMIM:172700
Mental Retardation, Autosomal Dominant 48
Polymicrogyria, Stereotypy OMIM:617751
Cri-Du-Chat Syndrome
Overfriendliness, Hypertonia, Stereotypy OMIM:123450
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Stereotypy ORPHA:457240
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Hypertonia, Stereotypy ORPHA:79155
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Stereotypy DECIPHER:45
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Oromotor apraxia, EEG abnormality, Spasticity ORPHA:391372
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Impaired social interactions ORPHA:261197
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Mental Retardation, Autosomal Dominant 7
Stereotypical hand wringing, Ataxia, Incoordination, Stereotypy OMIM:614104
Smith-Magenis Syndrome
EEG abnormality, Stereotypy OMIM:182290
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Increased theta frequency activity in EEG, Interictal epileptiform activit... ORPHA:98784
Cerebral Creatine Deficiency Syndrome 1
Poor hand-eye coordination, Impaired social interactions, Spasticity, Stereotypy OMIM:300352
Kohlschutter-Tonz Syndrome-Like
EEG with focal spike waves, Upper limb spasticity, Myoclonus, Lower limb spasticity, Hypsarrhythm... OMIM:619229
4Q21 Microdeletion Syndrome
Tremor, Stereotypy ORPHA:238750
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
48,Xxyy Syndrome
Tremor, Ataxia, Stereotypy ORPHA:10
Coffin-Siris Syndrome 6
Tics, Stereotypy OMIM:617808
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy OMIM:618906
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy, Ataxia, Recurrent h... OMIM:619580
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Myoclonus, Tongue thrusting, Tremor, Ataxia, EEG abnormality, EEG with abnormally slow frequencie... ORPHA:98794
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Spastic gait, Spastic tetrapl... OMIM:619121
Macrocephaly-Developmental Delay Syndrome
EEG with generalized slow activity, Stereotypy ORPHA:397612
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Phelan-Mcdermid Syndrome
Impaired social interactions, Tongue thrusting, Poor eye contact, Stereotypy OMIM:606232
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Stereotypy ORPHA:927
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Stereotypy ORPHA:500159
Shukla-Vernon Syndrome
Stereotypy OMIM:301029
Angelman Syndrome
Myoclonus, Tongue thrusting, Poor eye contact, Tremor, Ataxia, EEG abnormality, Recurrent hand fl... ORPHA:72
Distal Xq28 Microduplication Syndrome
Stereotypical body rocking, Poor eye contact ORPHA:293939
2Q23.1 Microdeletion Syndrome
Ataxia, Stereotypy ORPHA:228402
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Angelman Syndrome Due To A Point Mutation
Ataxia, Recurrent hand flapping, Tongue thrusting, EEG abnormality ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Recurrent hand flapping, Hypertonia, Stereotypy OMIM:300986
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy OMIM:617044
Inverted Duplicated Chromosome 15 Syndrome
Stereotypy ORPHA:3306
Pyruvate Carboxylase Deficiency
Lactic acidosis, Poor eye contact, Increased serum lactate, Tremor, Ataxia, Metabolic acidosis, A... ORPHA:3008
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Tongue thrusting, EEG abnormality ORPHA:98795
Developmental And Speech Delay Due To Sox5 Deficiency
Stereotypy ORPHA:313892
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy OMIM:618825
Megalocornea-Intellectual Disability Syndrome
Ataxia, EEG abnormality, Stereotypy ORPHA:2479
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Hypertonia, Stereotypy OMIM:618914
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Smith-Magenis Syndrome
EEG abnormality, Stereotypy ORPHA:819
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Stereotypy, EE... ORPHA:217253
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping OMIM:615516
Dilated Cardiomyopathy With Ataxia
Increased serum lactate, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Action tr... ORPHA:66634
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 34
Stereotypy OMIM:616351
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spasticity ORPHA:496641
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Ataxia, Stereotypy OMIM:619435
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Stereotypy ORPHA:391307
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Dysmetria, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia... ORPHA:314647
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Spasticity, Stereotypy OMIM:300486
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Pachygyria, Stereotypical hand wringing, Simplified gyral pattern OMIM:619179
3P25.3 Microdeletion Syndrome
Ataxia, Stereotypy ORPHA:435638
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Isometric tremor, Head titubation, Multifocal epileptiform discharges, Cerebral palsy, To... OMIM:619475
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Stereotypy OMIM:619103
7Q11.23 Microduplication Syndrome
Dysmetria, Impaired social interactions, Simplified gyral pattern, Stereotypy ORPHA:96121
Cystinosis
Abnormal pyramidal sign, Stereotypy ORPHA:213
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
No social interaction, Hypertonia, Opisthotonus, Stereotypy ORPHA:508533
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Spasticity ORPHA:401777
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Stereotypy, Pachygyria, Hypertonia, Hyperk... ORPHA:468631
Helsmoortel-Van Der Aa Syndrome
Stereotypy OMIM:615873
Niemann-Pick Disease Type C
Clumsiness, Cataplexy, Frequent falls, Chorea, Myoclonus, Progressive gait ataxia, Speech apraxia... ORPHA:646
22Q11.2 Duplication Syndrome
Stereotypy ORPHA:1727
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Hypertonia, EEG abnormality, Multifocal epileptiform discharges ORPHA:1675
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions, Stereotypy ORPHA:177907
Bainbridge-Ropers Syndrome
Recurrent hand flapping, Hypertonia, Stereotypy OMIM:615485
White-Sutton Syndrome
Incoordination, EEG abnormality, Stereotypy ORPHA:468678
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Hypertonia, Spasticity, Stereotypy OMIM:615802
48,Xxxy Syndrome
Tremor, Abnormal social behavior ORPHA:96263
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Stereotypy ORPHA:457279
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Stereotypy ORPHA:476126
2Q37 Microdeletion Syndrome
Stereotypy ORPHA:1001
Congenital Disorder Of Glycosylation, Type Iia
Hypertonia, Stereotypy OMIM:212066
Niemann-Pick Disease, Type C2
Stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
Kleefstra Syndrome 1
Stereotypy OMIM:610253
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Bainbridge-Ropers Syndrome
Recurrent hand flapping, Hypertonia ORPHA:352577
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Myoclonic spasms, Lower limb spasticity, Hypsarrhythmia, Stereotypy, Hypertonia ORPHA:447997
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Poor eye contact, Hypsarrhythmia, Stereotypy, Spastic tetraparesis, Hypertonia, EEG abnormality OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with occipital focal spikes, EEG with central focal spikes, EEG with parietal focal spikes, S... OMIM:301066
Kleefstra Syndrome
Stereotypy ORPHA:261494
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Metabolic acidosis, Renal tubular acidosis, Stereotypy OMIM:619575
Ogden Syndrome
Hypertonia, Stereotypy OMIM:300855
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
EEG abnormality, Stereotypy OMIM:619005
Mend Syndrome
Abnormal social behavior, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Apraxia OMIM:607485
21Q22.11Q22.12 Microdeletion Syndrome
Stereotypical body rocking, Tongue thrusting ORPHA:261323
Cardiofaciocutaneous Syndrome 1
Oculomotor apraxia, Hypertonia, Tongue thrusting OMIM:115150
Transketolase Deficiency
Stereotypy ORPHA:488618
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia OMIM:617330
Koolen-De Vries Syndrome Due To A Point Mutation
EEG with focal epileptiform discharges, Interictal epileptiform activity, Speech apraxia, EEG abn... ORPHA:363965
17Q21.31 Microdeletion Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, Speech apraxia, EEG abn... ORPHA:363958
Mgat2-Cdg
Stereotypical hand wringing, Hypsarrhythmia ORPHA:79329
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Stereotypy ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe
Clonus, Increased serum lactate, Proximal renal tubular acidosis, Stereotypy, EEG abnormality ORPHA:534
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Pachygyria, Gait ataxia ORPHA:513456
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
Choreoacanthocytosis
Hair-pulling, Self-injurious behavior, Aggressive behavior, Self-mutilation of tongue and lips du... ORPHA:2388
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Stereotypy OMIM:619512
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, EEG abnormality, Stereotypy ORPHA:353281
Dyrk1A-Related Intellectual Disability Syndrome
Stereotypy ORPHA:464306
Dpagt1-Cdg
Hypsarrhythmia, EEG with generalized slow activity, Tremor, Stereotypical body rocking, Hypertoni... ORPHA:86309
Wiedemann-Steiner Syndrome
Stereotypy ORPHA:319182
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Arboleda-Tham Syndrome
Lower limb hypertonia, Stereotypy OMIM:616268
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Abnormal social behavior ORPHA:805
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Stereotypy ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Stereotypy OMIM:309590
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Stereotypy OMIM:618653
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, EEG abnormality, Stereotypy ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, EEG abnormality, Stereotypy ORPHA:353277
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, EEG abnormality, Stereotypy ORPHA:1606
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Tongue thrusting, Hemiparesis ORPHA:369950
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Hypertonia, Stereotypical hand wringing ORPHA:268261
Mowat-Wilson Syndrome
Periventricular heterotopia, EEG with generalized slow activity, Stereotypy, Ataxia, Polymicrogyr... ORPHA:2152
Williams Syndrome
Involuntary movements, Dysmetria, Abnormality of extrapyramidal motor function, Tremor, Ataxia, S... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Proximal renal tubular acidosis, Stereotypy OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Stereotypy OMIM:616682
Wolf-Hirschhorn Syndrome
EEG abnormality, Stereotypy OMIM:194190
Rubinstein-Taybi Syndrome 1
Poor coordination, EEG abnormality, Stereotypy OMIM:180849
Norrie Disease
Clonus, Hypertonia, EEG abnormality, Stereotypy ORPHA:649
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Stereotypy OMIM:619522
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Coffin-Siris Syndrome 12
Stereotypy OMIM:619325
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Myoclonus, Stereotypical hand wringing, Exaggerated startle response ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Stereotypy, Poor fine motor coordination, Polymicrogyria, Spasticity... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Stereotypy, Poor fine motor coordination, Polymicrogyria, Spasticity... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Stereotypical body rocking, EEG abnormality OMIM:619503
Primrose Syndrome
Tics, Stereotypy OMIM:259050

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 Slc9a9

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 Slc9a9.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry. Nature communications (January 2018) Slc9a9tm2c(KOMP)Wtsi Slc9a9tm2a(KOMP)Wtsi Slc9a9tm2d(KOMP)Wtsi PMC5780507

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MGI Allele Allele Type Produced
Slc9a9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc9a9tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc9a9tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc9a9em1(IMPC)J Exon Deletion Mice

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