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Gene: Pxk MGI:1289230

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Gene Summary

Name:
PX domain containing serine/threonine kinase
Synonyms:
C230080L11Rik,  MONaKA,  D14Ertd813e

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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 alkaline phosphatase level Pxkem1(IMPC)Tcp HOM Early adult 2.28×10-11
increased bone mineral content Pxkem1(IMPC)Tcp HOM Early adult 2.03×10-05
decreased lean body mass Pxkem1(IMPC)Tcp HOM Early adult 2.32×10-06
abnormal skin morphology Pxkem1(IMPC)Tcp HOM Early adult 0.00
increased total body fat amount Pxkem1(IMPC)Tcp HOM Early adult 4.18×10-06
decreased mean corpuscular hemoglobin concentration Pxkem1(IMPC)Tcp HOM Early adult 4.26×10-06

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.

Eye Morphology

Images Ophthalmoscopy

98 Images

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Eye Morphology

Images Slit Lamp

96 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Pxk 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 Pxk by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia, Weight loss ORPHA:536

The table below shows human diseases predicted to be associated to Pxk by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Beta-Thalassemia
Reduced bone mineral density, Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal... ORPHA:848
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Reduced bone mineral density, Anemia of inadequate p... ORPHA:231222
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia, Flexion contracture ORPHA:98791
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leu... OMIM:617052
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia OMIM:619769
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior rib ends, Persis... OMIM:260400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Lead Poisoning
Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anemia... ORPHA:330015
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Thymoma
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Alkaptonuria
Reduced bone mineral density, Hemolytic anemia, Methemoglobinemia ORPHA:56
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia, Weight loss ORPHA:536

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 Pxk

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 Pxk.

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

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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
Pxktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pxktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pxkem1(IMPC)Tcp Exon Deletion Mice

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