Gene: Pdzk1 MGI:1928901

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Gene Summary

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Legacy Phenotype Associated Images

View all 102 images

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
OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
ORPHA:79506
Coronary Artery Disease, Autosomal Dominant, 1
OMIM:608320
Sitosterolemia 2
OMIM:618666
Plasma Fibronectin Deficiency
OMIM:614101
Glycogen Storage Disease Ixa1
OMIM:306000
Hypercholesterolemia, Familial, 4
OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
OMIM:144300
Glycogen Storage Disease Vi
OMIM:232700
Hyperlipidemia, Familial Combined, 3
OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2
OMIM:610947
Hepatic Lipase Deficiency
OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 8
OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
OMIM:615863
Hypercholesterolemia, Familial, 3
OMIM:603776
Citrullinemia, Type Ii, Neonatal-Onset
OMIM:605814
Hypercholesterolemia, Familial, 2
OMIM:144010
Ataxia With Vitamin 3 Deficiency
OMIM:277460
Morbid Obesity And Spermatogenic Failure
OMIM:615703
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
OMIM:607250
Analbuminemia
OMIM:616000
Distal Myopathy, Tateyama Type
ORPHA:488650
Apolipoprotein C-Ii Deficiency
OMIM:207750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
ORPHA:94124
Cholesteryl Ester Storage Disease
ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
OMIM:616828
Growth Hormone Insensitivity Syndrome
ORPHA:181393
Abdominal Obesity-Metabolic Syndrome 3
OMIM:615812
Temple Syndrome
OMIM:616222
Lipodystrophy, Familial Partial, Type 7
OMIM:606721
Chylomicron Retention Disease
OMIM:246700
Hyperlipoproteinemia, Type I
OMIM:238600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
ORPHA:254531
Laron Syndrome
ORPHA:633
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
OMIM:208920
Idiopathic Steroid-Resistant Nephrotic Syndrome
ORPHA:567548
Congenital Analbuminemia
ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
ORPHA:209902
Galactokinase Deficiency
ORPHA:79237
Hyperlipoproteinemia, Type V
OMIM:144650
Sitosterolemia 1
OMIM:210250
Nephrotic Syndrome, Type 11
OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
ORPHA:64753
Smith-Magenis Syndrome
OMIM:182290
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
ORPHA:247598
9Q31.1Q31.3 Microdeletion Syndrome
ORPHA:401923
Citrullinemia Type Ii
ORPHA:247585
Dysbetalipoproteinemia
ORPHA:412
Lysosomal Acid Lipase Deficiency
OMIM:278000
Cog4-Cdg
ORPHA:263501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
ORPHA:96184
Congenital Generalized Lipodystrophy
ORPHA:528
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
OMIM:610644
Mandibuloacral Dysplasia
ORPHA:2457
Galloway-Mowat Syndrome 7
OMIM:618348
Alpha-Fetoprotein, Hereditary Persistence Of
OMIM:615970
Megalocornea-Mental Retardation Syndrome
OMIM:249310
Acquired Aneurysmal Subarachnoid Hemorrhage
ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
ORPHA:2479
Smith-Magenis Syndrome
ORPHA:819
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
ORPHA:264580
Lipodystrophy, Familial Partial, Type 2
OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
ORPHA:90674
Lmna-Related Cardiocutaneous Progeria Syndrome
ORPHA:363618
Lysinuric Protein Intolerance
ORPHA:470
Lysosomal Acid Lipase Deficiency
ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
ORPHA:79259
Alagille Syndrome 1
OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
ORPHA:534
Homozygous Familial Hypercholesterolemia
ORPHA:391665
Lowe Oculocerebrorenal Syndrome
OMIM:309000
Steinert Myotonic Dystrophy
ORPHA:273
Alpha-Fetoprotein Deficiency
OMIM:615969

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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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
Pdzk1tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Pdzk1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdzk1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pdzk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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