Gene Summary

Name:
molybdenum cofactor sulfurase
Synonyms:
1110018O12Rik

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 cholesterol level Mocosem2(IMPC)Ics HET Early adult 8.41×10-05
increased circulating HDL cholesterol level Mocosem2(IMPC)Ics HET   Early adult 6.14×10-05
increased total body fat amount Mocosem2(IMPC)Ics HET Early adult 8.75×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Mocos 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.

The table below shows human diseases associated to Mocos by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Xanthinuria, Type Ii
Hyperxanthinemia, Increased circulating hypoxanthine concentration, Hypouricemia OMIM:603592

The table below shows human diseases predicted to be associated to Mocos by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... OMIM:612526
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Temple Syndrome
Hypertriglyceridemia, Flexion contracture, Hypercholesterolemia OMIM:616222
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fatty acid leve... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of truncal su... OMIM:151660
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Lipodystrophy, Hypoalbuminemia, Hyperc... ORPHA:86816
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholest... ORPHA:528
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Laron Syndrome
Hypercholesterolemia ORPHA:633
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Fl... OMIM:248370
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Hypercholesterolemia ORPHA:363618
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Umbilical hernia, Hypercholesterolemia, Abnormal circulating thyrogl... ORPHA:90674
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Hypertriglyceridemia, ... OMIM:606721
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Inguinal hernia, Hypoammonemia, Hyponatremia, Hypercholesterolemia... ORPHA:534
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Camptodactyly of finger, Enamel hypoplasia, Bicarbonaturia, Hyperc... OMIM:309000
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Inguinal hernia, Conjugated hyp... OMIM:619534
Xanthinuria, Type Ii
Hyperxanthinemia, Increased circulating hypoxanthine concentration, Hypouricemia OMIM:603592

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 Mocos

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 Mocos.

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

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MGI Allele Allele Type Produced
Mocostm79998(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mocostm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mocosem2(IMPC)Ics Deletion Mice

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