Gene Summary

Name:
pecanex homolog 2
Synonyms:
Pcnxl2,  E330039K12Rik

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
decreased grip strength Pcnx2em1(IMPC)J HOM   Early adult 3.57×10-05
decreased bone mineral content Pcnx2em1(IMPC)J HET   Early adult 7.06×10-07
decreased bone mineral density Pcnx2em1(IMPC)J HET   Early adult 1.44×10-05
increased circulating total protein level Pcnx2em1(IMPC)J HET   Early adult 5.73×10-06
hyperactivity Pcnx2em1(IMPC)J HOM Early adult 9.87×10-05

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 Forepaw

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

Auditory Brain Stem Response

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

10 Images

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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
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
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Multiple Myeloma
Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine concentration,... ORPHA:29073
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Gaisböck Syndrome
Hyperproteinemia, Gout, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, H... ORPHA:90041
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Hypophosphatemic Bone Disease
Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture OMIM:608093
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Omenn Syndrome
Hypoproteinemia OMIM:603554
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Leptospirosis
Hyperproteinemia ORPHA:509
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hypoproteinemia OMIM:615895
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Histidinemia
Hyperactivity ORPHA:2157
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Pierson Syndrome
Hypoproteinemia OMIM:609049
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
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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