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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 circulating HDL cholesterol level Slc9a9em1(IMPC)J HOM Early adult 8.47×10-05
increased grip strength Slc9a9em1(IMPC)J HOM Early adult 3.55×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms, EEG abnormality, Impaired ability to form peer relationships OMIM:607373
Autism
Abnormal repetitive mannerisms, EEG abnormality, Impaired ability to form peer relationships OMIM:209850
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions, Pachygyria OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms, EEG abnormality, Impaired ability to form peer relationships, Imp... OMIM:608636
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:608631
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior ORPHA:53372
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms, EEG abnormality OMIM:300425
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Abnormal repetitive mannerisms, EEG abnormality, Impaired social interactions OMIM:617820
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Abnormal repetitive mannerisms, Inappropriate laughter, EEG abnormality OMIM:619150
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, EEG abnormality OMIM:617171
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:617787
Autism, Susceptibility To, 3
Abnormal repetitive mannerisms, EEG abnormality, Impaired ability to form peer relationships OMIM:608049
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Abnormality of neuronal migration OMIM:618709
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:617830
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Bruxism, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, EEG abnormality OMIM:618718
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms OMIM:300271
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Foxg1 Syndrome
Impaired social interactions, Bruxism, Paroxysmal bursts of laughter, Pachygyria, Stereotypical h... ORPHA:561854
Trichotillomania
Hair-pulling OMIM:613229
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Pick Disease Of Brain
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:172700
Smith-Magenis syndrome
Abnormal repetitive mannerisms DECIPHER:8
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Abnormal repetitive mannerisms, Polymicrogyria OMIM:615282
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, EEG abnormality OMIM:239500
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Abnormal social behavior ORPHA:444002
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Abnormal repetitive mannerisms, Recurrent hand flapping OMIM:617862
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hsd10 Disease
Chronic lactic acidosis, Abnormal social behavior ORPHA:391417
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Autism, Susceptibility To, X-Linked 2
Abnormal repetitive mannerisms, EEG abnormality OMIM:300495
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Shyness ORPHA:280763
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Dopa-Responsive Dystonia
Fatigable weakness, Abnormal social behavior, Compulsive behaviors ORPHA:255
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Periventricular nodular heterotopia OMIM:620065
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Abnormal repetitive mannerisms, Simplified gyral pattern OMIM:619470
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, EEG with occipital epileptiform discharges, EEG with parietal epileptiform discha... OMIM:619428
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms OMIM:614063
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613670
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Female Restricted Epilepsy With Intellectual Disability
Compulsive behaviors, Abnormal social behavior ORPHA:101039
Baker-Gordon Syndrome
Abnormal repetitive mannerisms, EEG abnormality OMIM:618218
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Impaired social interactions ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 58
Abnormal repetitive mannerisms OMIM:617270
Christianson Syndrome
Abnormal repetitive mannerisms, Inappropriate laughter ORPHA:85278
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Intellectual Developmental Disorder, Autosomal Dominant 7
Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing OMIM:614104
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619690
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Rett Syndrome, Congenital Variant
Impaired social interactions, Bruxism, EEG abnormality, Simplified gyral pattern, Pachygyria, Ton... OMIM:613454
Chromosome 3Q29 Deletion Syndrome
Abnormal repetitive mannerisms OMIM:609425
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal repetitive mannerisms, Compulsive behaviors, Repetitive compulsive behavior ORPHA:352490
Lamb-Shaffer Syndrome
Abnormal repetitive mannerisms, Abnormal social behavior ORPHA:530983
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Pitt-Hopkins-Like Syndrome 1
Abnormal repetitive mannerisms, EEG abnormality, Impaired social interactions OMIM:610042
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms, Multifocal epileptiform discharges, EEG with spike-wave complexes... OMIM:619317
2Q23.1 Microdeletion Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter ORPHA:228402
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Simplified gyral pattern, Hypsarrhythmia OMIM:619877
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Hypsarrhythmia, Multifocal epileptiform discharges ORPHA:411986
Behavioral Variant Of Frontotemporal Dementia
Abnormal repetitive mannerisms, EEG with continuous slow activity, Collectionism ORPHA:275864
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Abnormal social behavior ORPHA:64280
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Abnormal repetitive mannerisms, Compulsive behaviors, Stereotypical hand wringing OMIM:618917
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Obsessive-compulsive trait, EEG with generalized slow activity... ORPHA:168491
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Lopes-Maciel-Rodan Syndrome
Bruxism, Abnormal repetitive mannerisms OMIM:617435
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Smith-Magenis Syndrome
Abnormal repetitive mannerisms, EEG abnormality, Head-banging, Self hugging OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms OMIM:615541
Laron Syndrome
Hypercholesterolemia ORPHA:633
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Impaired social interactions, Bruxism, Stereotypical hand wringing, Abnormal repe... OMIM:300912
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal repetitive mannerisms, Recurrent hand flapping, Impaired social interactions, Shyness ORPHA:449291
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Abnormal repetitive mannerisms OMIM:618342
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms OMIM:613886
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms OMIM:615637
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Overfriendliness OMIM:619293
Potocki-Lupski Syndrome
Abnormal repetitive mannerisms, EEG abnormality OMIM:610883
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Polymicrogyria, Impaired social interactions, Simplified gyral pattern, Ab... ORPHA:300570
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Abnormal repetitive mannerisms, Recurrent hand flapping, Paroxysmal bursts of laughter, Tongue th... OMIM:619580
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms OMIM:612069
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Interictal EEG abnormality ORPHA:79264
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics OMIM:617808
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:278000
Pontocerebellar Hypoplasia, Type 11
Abnormal repetitive mannerisms OMIM:617695
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms OMIM:619092
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms OMIM:613443
Hydroxykynureninuria
Abnormal repetitive mannerisms, Renal tubular acidosis, Metabolic acidosis ORPHA:79155
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Abnormal repetitive mannerisms, Obsessive-compulsive trait OMIM:618825
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Cri-Du-Chat Syndrome
Abnormal repetitive mannerisms, Overfriendliness OMIM:123450
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms OMIM:618906
Rett Syndrome
Abnormal repetitive mannerisms, EEG abnormality, Increased serum lactate, Stereotypical hand wrin... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 48
Abnormal repetitive mannerisms, Polymicrogyria OMIM:617751
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Chromosome 15Q11.2 Deletion Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Compulsive behaviors OMIM:615656
Xq28 (MECP2) duplication
Abnormal repetitive mannerisms DECIPHER:45
Short Stature, Developmental Delay, And Congenital Heart Defects
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:617044
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms, Polymicrogyria ORPHA:500159
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms ORPHA:208447
Chromosome 2Q37 Deletion Syndrome
Abnormal repetitive mannerisms, Stereotypical hand wringing OMIM:600430
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Abnormal repetitive mannerisms OMIM:600795
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms, EEG with generalized slow activity ORPHA:397612
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Interictal epileptiform activity, EEG with focal spikes, Increase... ORPHA:98784
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... OMIM:210250
Phelan-Mcdermid Syndrome
Bruxism, Abnormal repetitive mannerisms, Impaired social interactions, Tongue thrusting OMIM:606232
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Interictal epileptiform activity OMIM:617802
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:618027
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Shukla-Vernon Syndrome
Abnormal repetitive mannerisms OMIM:301029
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Abnormal repetitive mannerisms OMIM:301094
Developmental And Epileptic Encephalopathy 64
Bruxism, Abnormal repetitive mannerisms OMIM:618004
48,Xxyy Syndrome
Abnormal repetitive mannerisms ORPHA:10
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Impaired social interactions ORPHA:261197
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Bruxism, Abnormal repetitive mannerisms, Repetitive compulsive behavior OMIM:300260
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:618430
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Impaired social interactions OMIM:300352
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Abnormal repetitive mannerisms, Recurrent hand flapping, Compulsive behaviors OMIM:300986
Chromosome 5P13 Duplication Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Inverted Duplicated Chromosome 15 Syndrome
Abnormal repetitive mannerisms ORPHA:3306
Developmental Delay, Language Impairment, And Ocular Abnormalities
Abnormal repetitive mannerisms OMIM:620141
Radio-Tartaglia Syndrome
Abnormal repetitive mannerisms, Gray matter heterotopia OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Abnormal repetitive mannerisms OMIM:616351
Alazami Syndrome
Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:319671
Developmental And Speech Delay Due To Sox5 Deficiency
Abnormal repetitive mannerisms ORPHA:313892
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Pachygyria ORPHA:572013
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms ORPHA:457240
White-Sutton Syndrome
Abnormal repetitive mannerisms, Tics, Overfriendliness OMIM:616364
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms OMIM:617807
Intellectual Developmental Disorder, Autosomal Dominant 52
Abnormal repetitive mannerisms, Obsessive-compulsive trait OMIM:617796
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Abnormal repetitive mannerisms ORPHA:927
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormal social behavior ORPHA:309263
Kohlschutter-Tonz Syndrome-Like
Hypsarrhythmia, EEG abnormality, EEG with focal spike waves, Multifocal epileptiform discharges, ... OMIM:619229
Fg Syndrome Type 1
Compulsive behaviors, Abnormal social behavior ORPHA:93932
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 45
Abnormal repetitive mannerisms, Recurrent hand flapping OMIM:617600
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Abnormal repetitive mannerisms, Focal polymicrogyria, Head-banging OMIM:619103
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Abnormal repetitive mannerisms, EEG abnormality, Hypsarrhythmia, EEG with frontal sharp slow waves ORPHA:457351
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms OMIM:618205
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:370
Prader-Willi Syndrome Due To Translocation
Head-banging, Impaired social interactions, Abnormal social behavior, Abnormal repetitive manneri... ORPHA:177907
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Abnormal repetitive mannerisms OMIM:618354
22Q11.2 Duplication Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms OMIM:620073
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Hair-pulling, Aggressive behavior OMIM:616393
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Perisylvian polymicrogyria OMIM:619121
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:391307
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Abnormal repetitive mannerisms, Motor tics OMIM:619725
Ritscher-Schinzel Syndrome 4
Abnormal repetitive mannerisms OMIM:619435
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms, Hypsarrhythmia, EEG with generalized slow activity OMIM:300672
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, EEG abnormality, EEG with series of focal spikes, Repetitive compu... ORPHA:522077
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
7Q11.23 Microduplication Syndrome
Abnormal repetitive mannerisms, Simplified gyral pattern, Impaired social interactions, Collectio... ORPHA:96121
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Abnormal social behavior ORPHA:309271
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Abnormal repetitive mannerisms OMIM:618914
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
2Q37 Microdeletion Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:435638
Cystinosis
Abnormal repetitive mannerisms ORPHA:213
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:610253
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:620242
Dihydropyrimidine Dehydrogenase Deficiency
EEG abnormality, Multifocal epileptiform discharges, Abnormal social behavior ORPHA:1675
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, No social interaction ORPHA:508533
White-Sutton Syndrome
Abnormal repetitive mannerisms, EEG abnormality, Compulsive behaviors ORPHA:468678
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Abnormal repetitive mannerisms, Metabolic acidosis, Head-banging, Renal tubular acidosis OMIM:619575
Bainbridge-Ropers Syndrome
Abnormal repetitive mannerisms, Recurrent hand flapping OMIM:615485
Congenital Disorder Of Glycosylation, Type Iia
Abnormal repetitive mannerisms, Stereotypical hand wringing OMIM:212066
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia ORPHA:275761
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypsarrhythmia, Impaired social interactions, Tics, Bruxism, EEG abnormality, Repetitive compulsi... OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Abnormal repetitive mannerisms OMIM:300486
Van Esch-O'Driscoll Syndrome
Abnormal repetitive mannerisms, Shyness OMIM:301030
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Polymicrogyria, Pachygyria, EEG with photoparoxysmal response OMIM:619777
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:476126
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms ORPHA:457279
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Simplified gyral pattern, Pachygyria, Abnormal repetitive mannerisms, Lissencepha... ORPHA:468631
Rauch-Steindl Syndrome
Abnormal repetitive mannerisms OMIM:619695
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Transketolase Deficiency
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:488618
Helsmoortel-Van Der Aa Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Bruxism, Compulsive behaviors OMIM:615873
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, EEG abnormality, Inappropriate laughter, EEG with focal epileptiform discharges... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, EEG abnormality, Inappropriate laughter, EEG with focal epileptiform discharges... ORPHA:363958
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Kleefstra Syndrome
Abnormal repetitive mannerisms ORPHA:261494
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Abnormal repetitive mannerisms, EEG with parietal focal spikes, EEG with central focal spikes, EE... OMIM:301066
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability ORPHA:447997
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, EEG abnormality OMIM:619005
Choreoacanthocytosis
Head-banging, Emotional lability, Hair-pulling, Apathy, Anxiety, Irritability, Self-injurious beh... ORPHA:2388
Mend Syndrome
Abnormal auditory evoked potentials, Abnormal social behavior ORPHA:401973
Pitt-Hopkins Syndrome
Abnormal repetitive mannerisms OMIM:610954
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Nmda Receptor Encephalitis
Abnormal repetitive mannerisms, EEG with temporal sharp slow waves, No social interaction ORPHA:217253
Kinsship Syndrome
Bruxism, Abnormal repetitive mannerisms OMIM:619297
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Abnormal social behavior ORPHA:314647
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Abnormality of neuronal migration ORPHA:464311
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Abnormal repetitive mannerisms, Compulsive behaviors OMIM:619512
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal repetitive mannerisms, EEG abnormality, Impaired social interactions, Compulsive behaviors ORPHA:353281
Tuberous Sclerosis Complex
Abnormal social behavior, Repetitive compulsive behavior ORPHA:805
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms OMIM:607625
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Stereotypical body rocking, Pachygyria, Repetitive compulsive beh... ORPHA:513456
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha... OMIM:309000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms, EEG abnormality, Hypsarrhythmia OMIM:301044
Wiedemann-Steiner Syndrome
Abnormal repetitive mannerisms ORPHA:319182
Niemann-Pick Disease Type C
Compulsive behaviors, Abnormal social behavior ORPHA:646
Dyrk1A-Related Intellectual Disability Syndrome
Abnormal repetitive mannerisms ORPHA:464306
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal repetitive mannerisms, EEG abnormality, Impaired social interactions, Compulsive behaviors ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal repetitive mannerisms, EEG abnormality, Impaired social interactions, Compulsive behaviors ORPHA:353277
Ogden Syndrome
Abnormal repetitive mannerisms OMIM:300855
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms OMIM:616268
Mucopolysaccharidosis Type 2
Abnormal repetitive mannerisms, Decreased nerve conduction velocity ORPHA:580
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms OMIM:618653
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Hypotonia, Ataxia, And Delayed Development Syndrome
Abnormal repetitive mannerisms OMIM:617330
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Abnormal repetitive mannerisms OMIM:309590
1P36 Deletion Syndrome
Abnormal repetitive mannerisms, EEG abnormality ORPHA:1606
Williams Syndrome
Compulsive behaviors, Overfriendliness, Abnormal social behavior ORPHA:904
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... OMIM:619534
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms, EEG abnormality OMIM:194190
Mowat-Wilson Syndrome
Polymicrogyria, Impaired social interactions, EEG with spike-wave complexes, Bruxism, EEG with ge... ORPHA:2152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Abnormal repetitive mannerisms OMIM:612474
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Coffin-Siris Syndrome 12
Abnormal repetitive mannerisms OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Exaggerated startle response OMIM:619522
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms OMIM:616682
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Bruxism, EEG abnormality, Abnormal repetitive mannerisms, Periventricular heterot... ORPHA:261537
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:614756
Norrie Disease
Abnormal repetitive mannerisms, EEG abnormality ORPHA:649
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Bruxism, EEG abnormality, Abnormal repetitive mannerisms, Periventricular heterot... ORPHA:261552
Primrose Syndrome
Abnormal repetitive mannerisms, Tics 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

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
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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