Gene Summary

transmembrane 9 superfamily member 4

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 cholesterol level Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 4.32×10-05
increased circulating total protein level Tm9sf4tm1a(KOMP)Wtsi HOM   Early adult 4.28×10-05
decreased body length Tm9sf4tm1a(KOMP)Wtsi HOM   Early adult 4.90×10-05
vertebral transformation Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 2.53×10-08
increased circulating LDL cholesterol level Tm9sf4tm1a(KOMP)Wtsi HOM   Early adult 1.19×10-05
abnormal thoracic cage shape Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 1.79×10-05
decreased body weight Tm9sf4tm1a(KOMP)Wtsi HOM   Early adult 3.18×10-05
increased circulating HDL cholesterol level Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 3.55×10-05

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Forepaw

14 Images


XRay Images Skull Dorso Ventral Orientation

14 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 106 images

Human diseases caused by Tm9sf4 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 Tm9sf4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia OMIM:301033
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... OMIM:615703
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology, Prominent floating ribs OMIM:152800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... ORPHA:86816
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Obesity, Overweight, Hypercholesterolemia, Hype... ORPHA:90041
Multiple Myeloma
Weight loss, Vertebral compression fracture, Hypercalcemia, Elevated circulating creatinine conce... ORPHA:29073
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity, Hypercholesterolemia ORPHA:181393
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hirsutism, Hypercholesterolemia OMIM:612526
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia OMIM:616267
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Scoliosis, Hypercholesterolemia ORPHA:254531
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Temple Syndrome
Small for gestational age, Obesity, Truncal obesity, Overweight, Scoliosis, Hypercholesterolemia,... OMIM:616222
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
9Q31.1Q31.3 Microdeletion Syndrome
Cervical kyphosis, Short neck, Hypercholesterolemia, Highly arched eyebrow, Thick hair ORPHA:401923
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Failure to thrive, Increased... OMIM:267700
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail... OMIM:605814
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to... ORPHA:79237
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Scoliosis, Elevated circulating creatine kinase concentration OMIM:208920
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride... OMIM:615812
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Small for gestational age, Scoliosis, Truncal obesity, Obesity ORPHA:96184
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hirsutism, Hypercholesterolemia ORPHA:77296
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Refractory Celiac Disease
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Small for gestational age, Elevated circulating crea... ORPHA:26793
Thick hair, Hypercholesterolemia ORPHA:263501
Smith-Magenis Syndrome
Increased body weight, Hypertriglyceridemia, Scoliosis, Hypercholesterolemia OMIM:182290
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Failure to thrive, Increased circulating ferritin concentration, Hypop... OMIM:603553
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Polycystic ovaries, Low posterior hairline, Hype... ORPHA:528
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Bile duct proliferation, Increased serum bi... OMIM:619662
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Primary Intestinal Lymphangiectasia
Weight loss, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypoproteinemia, Short neck, Cryptorchidism, Hypocalcemia, Hypertric... OMIM:235255
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism OMIM:608093
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Smith-Magenis Syndrome
Obesity, Scoliosis, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Abn... ORPHA:819
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Xanthe... ORPHA:412
Johanson-Blizzard Syndrome
Alopecia, Hypoproteinemia, Abnormal hair pattern ORPHA:2315
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia OMIM:610644
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Scoliosis, Elevated circulating creatine kinase concentration OMIM:615895
Mandibuloacral Dysplasia
Alopecia, Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:2457
Lysosomal Acid Lipase Deficiency
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:278000
Omenn Syndrome
Alopecia, Hypoproteinemia, Hypoplasia of the thymus OMIM:603554
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hypoproteinemia, Short neck, Cryptorchidism, Hypocalcemia, Hypertric... ORPHA:1655
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Hypercholesterolemia OMIM:618348
Hyperproteinemia ORPHA:509
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Hypercholesterolemia ORPHA:2479
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Megalocornea-Mental Retardation Syndrome
Low anterior hairline, Hypercholesterolemia OMIM:249310
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... ORPHA:264580
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Abnormal circu... ORPHA:90674
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypercholesterolemia ORPHA:90065
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, Hypercholester... ORPHA:363618
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of hair, Incre... ORPHA:167
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hirsutism, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hyp... OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Sparse scalp hair, Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Lysosomal Acid Lipase Deficiency
Weight loss, Cachexia, Hyperkalemia, Steatorrhea, Failure to thrive, Xanthelasma, Hypercholestero... ORPHA:275761
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Ste... ORPHA:470
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Kyphosis, Elevated amniotic fluid alpha-fetoprotein, E... OMIM:309000
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia OMIM:619471
Alagille Syndrome 1
Butterfly vertebral arch, Failure to thrive, Hypercholesterolemia, Abnormal rib morphology, Hemiv... OMIM:118450
Immunodeficiency 47
Failure to thrive, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Sparse scalp hair, Hyponatremia, Kyphosis, Hypokalemia, Hypophosphatemia, Fin... ORPHA:534
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Dry hair, Hyperalaninemia, Biliary hyperplasia, Elevated hepatic iron conc... OMIM:619991
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Failure to thrive, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyc... ORPHA:79259
Pierson Syndrome
Hypoproteinemia OMIM:609049
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Failure to thrive, Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Steinert Myotonic Dystrophy
Alopecia, Decreased response to growth hormone stimulation test, Secondary hyperparathyroidism, O... ORPHA:273
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2929
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Failure to thrive, Increased circulating ferritin concentration, Hypercholest... OMIM:619534


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 Tm9sf4

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 Tm9sf4.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease. Cellular and molecular gastroenterology and hepatology (April 2022) Tm9sf4tm1a(KOMP)Wtsi PMC9218505
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tm9sf4tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tm9sf4tm1a(KOMP)Wtsi Tm9sf4tm1a(KOMP)Wtsi PMC6459510
TM9SF4 is a novel factor promoting autophagic flux under amino acid starvation. Cell death and differentiation (November 2017) Tm9sf4tm1a(KOMP)Wtsi 29125601
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Tm9sf4tm1a(KOMP)Wtsi PMC3996542

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MGI Allele Allele Type Produced
Tm9sf4tm361568(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tm9sf4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tm9sf4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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