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Gene: Tspan17 MGI:1921507

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Gene Summary

Name:
tetraspanin 17
Synonyms:
Fbxo23,  2210021G21Rik,  Tm4sf17

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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 iron level Tspan17em1(IMPC)H HOM Late adult 1.40×10-07
increased circulating cholesterol level Tspan17em1(IMPC)H HOM   Early adult 1.59×10-05

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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.

Echo

M-Mode Images

72 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Tspan17 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 Tspan17 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
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
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
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... OMIM:615517
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... ORPHA:254704
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate OMIM:603358
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
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
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased serum iron OMIM:206100
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:79230
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentration OMIM:231100
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
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
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... OMIM:210250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated hepatic iron concentration, Elevated transferrin saturation, Increased circulating ferri... OMIM:615234
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
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
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia ORPHA:275761
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
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:465508
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Abnormality of iron homeostasis ORPHA:231222
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha... OMIM:309000
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Increased total i... ORPHA:309854
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... OMIM:619534
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064

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 Tspan17

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 Tspan17.

No publications found that use IMPC mice or data for Tspan17.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tspan17tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tspan17em1(IMPC)H Indel Mice
Tspan17em2(IMPC)H Indel Mice
Tspan17tm96618(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tspan17tm96618(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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