Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 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 cholesterol level Tm9sf4tm1a(KOMP)Wtsi HOM Early adult 4.32×10-05
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
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
increased circulating total protein level Tm9sf4tm1a(KOMP)Wtsi HOM   Early adult 4.28×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

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
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Glycogen Storage Disease Vi
Hypercholesterolemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone level OMIM:301033
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Lymphangiectasia, Intestinal
Abnormal hair morphology, Neonatal hypoproteinemia, Prominent floating ribs OMIM:152800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hypercholesterolemia, Hypertr... ORPHA:90041
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Temple Syndrome
Small for gestational age, Truncal obesity, Hypercholesterolemia, Hypertriglyceridemia, Overweigh... OMIM:616222
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Weight loss, Elevated circulating creatinine concentration, Vert... ORPHA:29073
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... ORPHA:86816
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Growth Hormone Insensitivity Syndrome
Failure to thrive, Hypercholesterolemia, Truncal obesity ORPHA:181393
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hirsutism, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Abnormal hair quantity ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Scoliosis ORPHA:254531
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Hypercholesterolemia, Thick hair, Cervical kyphosis, Short neck ORPHA:401923
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Failure to thrive, Increa... OMIM:267700
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Galactokinase Deficiency
Hypergalactosemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, Increased ... ORPHA:79237
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Truncal obesity, Hypercholesterolemia, Obesity, Scoliosis ORPHA:96184
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Scoliosis, Hypoalbuminemia OMIM:208920
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hirsutism, Hyperuricemia ORPHA:77296
Omenn Syndrome
Hypoproteinemia, Hypoplasia of the thymus, Alopecia OMIM:603554
Refractory Celiac Disease
Hypoproteinemia, Weight loss, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Smith-Magenis Syndrome
Hypercholesterolemia, Scoliosis, Hypertriglyceridemia, Increased body weight OMIM:182290
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Generalized Lipodystrophy
Hypertrichosis, Low anterior hairline, Polycystic ovaries, Hypercholesterolemia, Hypertriglycerid... ORPHA:528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, H... ORPHA:26793
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Failure ... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Cog4-Cdg
Hypercholesterolemia, Thick hair ORPHA:263501
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism OMIM:608093
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypertrichosis, Short neck, Pancreatic lymphangiectasis, Hypocalcemia, Cryptorch... OMIM:235255
Cholestasis, Progressive Familial Intrahepatic, 8
Bile duct proliferation, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbiliru... OMIM:619662
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Nail dystrophy, Decreased testicular size, Hypertriglyceridemia OMIM:610644
Mandibuloacral Dysplasia
Alopecia, Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:2457
Smith-Magenis Syndrome
Failure to thrive in infancy, Abnormal form of the vertebral bodies, Hypercholesterolemia, Hypert... ORPHA:819
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Failure to thrive, Increased LDL cholesterol concentrati... OMIM:278000
Dengue Fever
Hypoproteinemia ORPHA:99828
Johanson-Blizzard Syndrome
Hypoproteinemia, Alopecia, Abnormal hair pattern ORPHA:2315
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypertrichosis, Short neck, Pancreatic lymphangiectasis, Hypocalcemia, Cryptorch... ORPHA:1655
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Kyphoscoliosis OMIM:618348
Leptospirosis
Hyperproteinemia ORPHA:509
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia OMIM:210250
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Scoliosis, Kyphosis ORPHA:2479
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Obesity, Overweight ORPHA:69663
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Low anterior hairline OMIM:249310
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thy... ORPHA:90674
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hype... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, I... ORPHA:79240
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Hypercholesterolemia, Hypertriglyceridemia, Alopecia universali... ORPHA:363618
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hirsutism, Polycystic ovaries, Hypercholesterolemia, Hyp... OMIM:151660
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia... ORPHA:167
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism ORPHA:90065
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Failure to th... ORPHA:470
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Xanth... ORPHA:275761
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Elevated maternal serum alpha-fetoprotein, Platyspondyly, Kyphosis, Hyperchole... OMIM:309000
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Pierson Syndrome
Hypoproteinemia OMIM:609049
Immunodeficiency 47
Failure to thrive, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Oculocerebrorenal Syndrome Of Lowe
Fine hair, Hyponatremia, Hypokalemia, Hypophosphatemia, Platyspondyly, Kyphosis, Hypercholesterol... ORPHA:534
Alagille Syndrome 1
Hemivertebrae, Failure to thrive, Hypercholesterolemia, Butterfly vertebral arch, Hypertriglyceri... OMIM:118450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Failure to thrive, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyc... ORPHA:79259
Steinert Myotonic Dystrophy
Testicular atrophy, Early balding, Alopecia, Secondary hyperparathyroidism, Cholelithiasis, Hyper... ORPHA:273
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2929
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholes... OMIM:619534

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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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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