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Gene: Pdzk1 MGI:1928901

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Gene Summary

Name:
PDZ domain containing 1
Synonyms:
4921513F16Rik,  D3Ertd537e,  Nherf3,  2610507N21Rik,  1700023D20Rik,  mPDZK1

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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 HDL cholesterol level Pdzk1tm2b(EUCOMM)Wtsi HET Early adult 1.71×10-05
increased circulating LDL cholesterol level Pdzk1tm2b(EUCOMM)Wtsi HET Early adult 1.13×10-05
increased circulating cholesterol level Pdzk1tm2b(EUCOMM)Wtsi HET   Early adult 7.61×10-07
preweaning lethality, incomplete penetrance Pdzk1tm2b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 Forepaw

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Pdzk1tm2b(EUCOMM)Wtsi
HET, Female, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
HET, Female, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
WT, Male, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
WT, Male, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
HET, Male, WTSI

View all 102 images

Pdzk1tm2b(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HET, Male, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
head, abnormal snout morphology, upturned snout, HET, Male, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Male, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
abnormal snout morphology, upturned snout, head, HET, Male, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Male, WTSI
Pdzk1tm2b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Pdzk1 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 Pdzk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... 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
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... OMIM:144650
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... 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 Pdzk1

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 Pdzk1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pdzk1tm2b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Pdzk1tm2b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pdzk1tm2b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pdzk1tm2b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pdzk1tm2b(EUCOMM)Wtsi PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Pdzk1tm2b(EUCOMM)Wtsi PMC5159622

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MGI Allele Allele Type Produced
Pdzk1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pdzk1tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pdzk1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdzk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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