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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
increased total body fat amount Nup205em1(IMPC)J HET Early adult 2.01×10-05
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
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.

X-ray

XRay Images Skull Lateral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 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
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... 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, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca... OMIM:616222
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, Failure to thrive... ORPHA:528
Galactokinase Deficiency
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole... ORPHA:79237
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Hyperuricemia ORPHA:77296
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity, Hypercholesterolemia ORPHA:96184
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... OMIM:248370
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity ORPHA:819
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... 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
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Elevated circulating creatine ... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:264580
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Umbilical hernia, Hypercholesterolemia, Abnormal circulating thyroglobulin lev... ORPHA:90674
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... ORPHA:275761
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t... ORPHA:79259
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... ORPHA:534
Alagille Syndrome 1
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia OMIM:118450
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia 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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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