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Gene: Pcnx2 MGI:2445010

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Gene Summary

Name:
pecanex homolog 2
Synonyms:
Pcnxl2,  E330039K12Rik

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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 bone mineral content Pcnx2em1(IMPC)J HET Early adult 2.96×10-06
decreased bone mineral density Pcnx2em1(IMPC)J HET Early adult 9.80×10-05
increased circulating total protein level Pcnx2em1(IMPC)J HET Early adult 5.73×10-06
decreased grip strength Pcnx2em1(IMPC)J HOM   Early adult 7.72×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Forepaw

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

10 Images

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Human diseases caused by Pcnx2 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 Pcnx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Osteoporosis
Osteoporosis OMIM:166710
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho... ORPHA:29073
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Gaisböck Syndrome
Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, H... ORPHA:90041
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Dengue Fever
Hypoproteinemia ORPHA:99828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Leptospirosis
Hyperproteinemia ORPHA:509
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Omenn Syndrome
Hypoproteinemia OMIM:603554
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu... OMIM:619991
Pierson Syndrome
Hypoproteinemia OMIM:609049
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929

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 Pcnx2

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 Pcnx2.

No publications found that use IMPC mice or data for Pcnx2.

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MGI Allele Allele Type Produced
Pcnx2em1(IMPC)J Exon Deletion Mice

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