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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:
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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 Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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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Electrocardiogram (ECG)

Waveform Image

18 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
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, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Foxg1 Syndrome
Impaired social interactions, Stereotypical hand wringing, Absent speech, Abnormal repetitive man... ORPHA:561854
Trichotillomania
Hair-pulling OMIM:613229
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Behavioral Variant Of Frontotemporal Dementia
Collectionism, EEG with continuous slow activity, Echolalia, Abnormal repetitive mannerisms ORPHA:275864
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Shyness ORPHA:280763
Autism Spectrum Disorder Due To Auts2 Deficiency
Delayed speech and language development, Repetitive compulsive behavior, Abnormal repetitive mann... ORPHA:352490
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Multifocal epileptiform discharges, Reduced eye contact, Abnormal repetitive mann... ORPHA:411986
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity grade 4, EEG with series of focal spikes, Delayed speech and l... ORPHA:168491
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Absent speech, Impaired social interactions ORPHA:168782
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Absent speech ORPHA:85277
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
5Q14.3 Microdeletion Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:228384
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
EEG abnormality, Delayed speech and language development, Repetitive compulsive behavior, Speech ... ORPHA:391372
Lamb-Shaffer Syndrome
Delayed speech and language development, Abnormal social behavior, Abnormal repetitive mannerisms ORPHA:530983
Christianson Syndrome
Abnormal repetitive mannerisms, Absent speech ORPHA:85278
Macrocephaly-Developmental Delay Syndrome
Delayed speech and language development, EEG with generalized slow activity, Abnormal repetitive ... ORPHA:397612
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Inverted Duplicated Chromosome 15 Syndrome
Severe expressive language delay, Severe receptive language delay, Echolalia, Abnormal repetitive... ORPHA:3306
Rett Syndrome
EEG abnormality, Stereotypical hand wringing, Abnormal repetitive mannerisms, Absent speech, Incr... ORPHA:778
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
4Q21 Microdeletion Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:238750
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms, Absent speech, Polymicrogyria ORPHA:500159
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Impaired social interactions, Delayed speech and language development, Recurrent hand fl... ORPHA:449291
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, EEG abnormality, Severe receptive language delay, Hypsarrhythm... ORPHA:457351
2Q23.1 Microdeletion Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:228402
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Developmental And Speech Delay Due To Sox5 Deficiency
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:313892
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:457240
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Echolalia, Abnormal repetitive mannerisms ORPHA:927
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:391307
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Delayed speech and language development, Moderate receptive languag... ORPHA:261197
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Impaired social interactions, Simplified gyral pattern, Lissencephaly, Abnormal repetitive manner... ORPHA:300570
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Abnormal repetitive mannerisms ORPHA:79264
Laron Syndrome
Hypercholesterolemia ORPHA:633
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
22Q11.2 Duplication Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Childhood Absence Epilepsy
Punding, Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz) ORPHA:64280
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Smith-Magenis Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, EEG abnormality ORPHA:819
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Absent speech, Compulsive behaviors ORPHA:401777
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms, Absent speech ORPHA:261144
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Hydroxykynureninuria
Renal tubular acidosis, Abnormal repetitive mannerisms, Metabolic acidosis ORPHA:79155
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with series of focal spikes, EEG abnormality, Repetitive compulsive behavior, EEG with focal ... ORPHA:522077
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms ORPHA:208447
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
3P25.3 Microdeletion Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech ORPHA:435638
Transketolase Deficiency
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech, Compulsiv... ORPHA:488618
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Interictal epileptiform activity, Abnormal repetitive mannerisms, Increase... ORPHA:98784
48,Xxyy Syndrome
Abnormal repetitive mannerisms ORPHA:10
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
White-Sutton Syndrome
EEG abnormality, Delayed speech and language development, Absent speech, Compulsive behaviors, Ab... ORPHA:468678
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Bruxism, Repetitive compulsive behavior, Absent speech OMIM:300260
Alazami Syndrome
Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:319671
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Pachygyria ORPHA:572013
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech ORPHA:457279
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Absent speech, Compulsive behaviors ORPHA:476126
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Prader-Willi Syndrome Due To Translocation
Head-banging, Impaired social interactions, Delayed speech and language development, Abnormal soc... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech OMIM:616393
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, EEG abnormality ORPHA:2479
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Absent speech ORPHA:496641
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
7Q11.23 Microduplication Syndrome
Impaired social interactions, Simplified gyral pattern, Delayed speech and language development, ... ORPHA:96121
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Kleefstra Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:261494
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
2Q37 Microdeletion Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Cystinosis
Abnormal repetitive mannerisms ORPHA:213
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, No social interaction, Absent speech ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Delayed speech and language development, Abnormal repetitive mannerisms, Abnormality of neuronal ... ORPHA:464311
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:447997
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Delayed speech and language development, Repetitive compulsive behavior, Absent speech, Abnormal ... ORPHA:513456
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... ORPHA:470
Dilated Cardiomyopathy With Ataxia
Increased serum lactate, Repetitive compulsive behavior ORPHA:66634
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Wiedemann-Steiner Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:319182
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Abnormal repetitive manneri... ORPHA:468631
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Dyrk1A-Related Intellectual Disability Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms ORPHA:464306
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Echolalia, EEG abnormality, Impaired social interactions, Delayed speech and language development... OMIM:619475
Nmda Receptor Encephalitis
Language impairment, EEG with temporal sharp slow waves, No social interaction, Abnormal repetiti... ORPHA:217253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
EEG abnormality, Impaired social interactions, Delayed speech and language development, Absent sp... ORPHA:353281
Oculocerebrorenal Syndrome Of Lowe
EEG abnormality, Abnormal repetitive mannerisms, Proximal renal tubular acidosis, Increased serum... ORPHA:534
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Choreoacanthocytosis
Aggressive behavior, Head-banging, Self-injurious behavior, Hair-pulling, Apathy, Emotional labil... ORPHA:2388
1P36 Deletion Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech, EEG abnor... ORPHA:1606
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
EEG abnormality, Impaired social interactions, Delayed speech and language development, Absent sp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
EEG abnormality, Impaired social interactions, Delayed speech and language development, Absent sp... ORPHA:353277
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior OMIM:607485
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Abnormal repetitive mannerisms ORPHA:580
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... OMIM:309000
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Abnormal social behavior ORPHA:805
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Monosomy 22Q13.3
Delayed speech and language development, Hair-pulling ORPHA:48652
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, EEG abnormality, Absent speech, Abnormal repetitive mannerisms, Expr... ORPHA:261537
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Mowat-Wilson Syndrome
Periventricular heterotopia, Impaired social interactions, Abnormal repetitive mannerisms, EEG wi... ORPHA:2152
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, EEG abnormality, Absent speech, Abnormal repetitive mannerisms, Expr... ORPHA:261552
Norrie Disease
Abnormal repetitive mannerisms, EEG abnormality ORPHA:649

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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