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Gene: Nup205 MGI:2141625

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Gene Summary

Name:
nucleoporin 205
Synonyms:
3830404O05Rik

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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
decreased lean body mass Nup205em1(IMPC)J HET Early adult 7.42×10-05
increased circulating cholesterol level Nup205em1(IMPC)J HET Early adult 1.46×10-05
increased total body fat amount Nup205em1(IMPC)J HET Early adult 2.01×10-05
preweaning lethality, complete penetrance Nup205em1(IMPC)J HOM   Early adult 0.00

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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.

Electrocardiogram (ECG)

Waveform Image

16 Images

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X-ray

XRay Images Forepaw

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Nup205 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 Nup205 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Nephrotic Syndrome, Type 13
OMIM:616893

The table below shows human diseases predicted to be associated to Nup205 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
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia, Failure to thrive OMIM:615863
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Generalized lipodystrophy, Hypertriglyceridemia, Reduced subcutaneous adipose tiss... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
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
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Growth Hormone Insensitivity Syndrome
Truncal obesity, Hypercholesterolemia, Failure to thrive ORPHA:181393
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Congenital Analbuminemia
Hypoproteinemia, Small for gestational age, Lipodystrophy, Obesity, Hyperlipidemia, Increased alp... ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased adipose tissue around the ne... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Increased adipo... OMIM:151660
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Temple Syndrome
Small for gestational age, Overweight, Truncal obesity, Hypertriglyceridemia, Flexion contracture... OMIM:616222
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia, Obesity OMIM:616267
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Truncal obesity, Hypertriglyceride... OMIM:615812
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Congenital Generalized Lipodystrophy
Lipodystrophy, Adipose tissue loss, Increased C-peptide level, Failure to thrive, Hypertriglyceri... ORPHA:528
Galactokinase Deficiency
Small for gestational age, Hypergalactosemia, Increased level of galactitol in plasma, Failure to... ORPHA:79237
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity ORPHA:209902
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Increased body weight OMIM:182290
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Obesity ORPHA:77296
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Hypercholesterolemia, Obesity ORPHA:96184
Citrullinemia Type Ii
Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Elevated plasma citrulline, Hyp... ORPHA:247585
Mandibuloacral Dysplasia With Type A Lipodystrophy
Camptodactyly, Lipodystrophy, Calcinosis, Increased adipose tissue around the neck, Reduced subcu... OMIM:248370
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypertriglyceridemia, De... OMIM:278000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Obesity ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... OMIM:210250
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Obesity ORPHA:69663
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, I... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypertriglyceridemia, Incr... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, F... ORPHA:370
Isolated Thyroid-Stimulating Hormone Deficiency
Umbilical hernia, Failure to thrive, Abnormal circulating thyroglobulin level, Neonatal hyperbili... ORPHA:90674
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Small for gestational age, Lipodystrophy, Absence o... OMIM:606721
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Lipoatrophy ORPHA:363618
Gaisböck Syndrome
Overweight, Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceride... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Steatorrhea, Cachexia, Hyponatremia, Failure to thrive, Hypertriglyceridemia, Hyperkalemia, Xanth... ORPHA:275761
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Failure to thrive, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hypercholest... ORPHA:79259
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Hypercholesterolemia, Corneal scarring, Bicarbonaturia, Enamel hypoplasi... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Inguinal hernia, Hypophosphatemia, Hypercholesterolemia, Umbilical hernia, Hy... ORPHA:534
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive OMIM:118450
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Failure to thrive, Hyperbilirubinemia, Hypoalbumi... OMIM:619534
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Nephrotic Syndrome, Type 13
OMIM:616893

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 Nup205

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 Nup205.

No publications found that use IMPC mice or data for Nup205.

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MGI Allele Allele Type Produced
Nup205tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nup205tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nup205em1(IMPC)J Exon Deletion Mice

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