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Gene: Tm9sf4 MGI:2139220

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Gene Summary

Name:
transmembrane 9 superfamily member 4
Synonyms:
N/A

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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 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
increased circulating LDL cholesterol level Tm9sf4tm1a(KOMP)Wtsi HOM   Early adult 1.19×10-05
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
abnormal thoracic cage shape Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 1.79×10-05
vertebral transformation Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 2.53×10-08
decreased body length Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 4.90×10-05

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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Legacy Phenotype Associated Images
Tm9sf4tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Tm9sf4tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Tm9sf4tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Tm9sf4tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Tm9sf4tm1a(KOMP)Wtsi
head, HOM, Male, WTSI

View all 106 images

Tm9sf4tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Tm9sf4tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Tm9sf4tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Tm9sf4tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Tm9sf4tm1a(KOMP)Wtsi
abnormal hair follicle morphology, HOM, Female, WTSI
Tm9sf4tm1a(KOMP)Wtsi
abnormal sebaceous gland morphology, HOM, Female, WTSI
Tm9sf4tm1a(KOMP)Wtsi
abnormal sebaceous gland morphology, HOM, Female, WTSI
Tm9sf4tm1a(KOMP)Wtsi
abnormal sebaceous gland morphology, HOM, Female, WTSI

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
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia 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
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Lymphangiectasia, Intestinal
Abnormal hair morphology, Prominent floating ribs, Neonatal hypoproteinemia OMIM:152800
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... ORPHA:90041
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Vert... ORPHA:29073
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism OMIM:612526
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Scoliosis ORPHA:254531
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Scoliosis,... OMIM:616222
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
9Q31.1Q31.3 Microdeletion Syndrome
Cervical kyphosis, Thick hair, Highly arched eyebrow, Short neck, Hypercholesterolemia ORPHA:401923
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Galactokinase Deficiency
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole... ORPHA:79237
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Obesity, Truncal obesity, Scoliosis, Hypercholesterolemia ORPHA:96184
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Hirsutism ORPHA:77296
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Scoliosis OMIM:182290
Cog4-Cdg
Hypercholesterolemia, Thick hair ORPHA:263501
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posterior hairline, P... ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr... OMIM:619662
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Short neck, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Hypertric... OMIM:235255
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Abnormal form of the vertebral bodie... ORPHA:819
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia OMIM:608093
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Johanson-Blizzard Syndrome
Alopecia, Hypoproteinemia, Abnormal hair pattern ORPHA:2315
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch... ORPHA:2457
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Nail dystrophy OMIM:610644
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration, Scoliosis OMIM:615895
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Omenn Syndrome
Hypoplasia of the thymus, Alopecia, Hypoproteinemia OMIM:603554
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Hypertric... ORPHA:1655
Dengue Fever
Hypoproteinemia ORPHA:99828
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Kyphoscoliosis OMIM:618348
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Leptospirosis
Hyperproteinemia ORPHA:509
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Kyphosis, Scoliosis ORPHA:2479
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Obesity ORPHA:69663
Neuhauser Syndrome
Hypercholesterolemia, Low anterior hairline OMIM:249310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Pituitary hypothyroidism, Macroorchidism, Hypercholesterolemia, Abnormal circ... ORPHA:90674
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism ORPHA:90065
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... ORPHA:363618
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of hair, Hypertriglyceridemia, Increased circulating ferritin conc... ORPHA:167
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hypercholester... OMIM:151660
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... ORPHA:275761
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky... OMIM:309000
Alagille Syndrome 1
Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Hypercholesterolemia, Failure to th... OMIM:118450
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration OMIM:300972
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Kyphosis, Ab... ORPHA:534
Liver Disease, Severe Congenital
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Biliary hyperplasia... OMIM:619991
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t... ORPHA:79259
Pierson Syndrome
Hypoproteinemia OMIM:609049
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Small for gestational age OMIM:606721
Steinert Myotonic Dystrophy
Alopecia, Decreased response to growth hormone stimulation test, Cholelithiasis, Early balding, O... ORPHA:273
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2929
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 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 6 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
TM9SF4 is a novel regulator in lineage commitment of bone marrow mesenchymal stem cells to either osteoblasts or adipocytes. Stem cell research & therapy (November 2021) Tm9sf4tm1a(KOMP)Wtsi PMC8590266
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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