Gene: Ptpn12 MGI:104673
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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 |
---|---|---|---|---|---|---|
embryonic lethality prior to tooth bud stage | Ptpn12tm1b(NCOM)Mfgc | HOM | E12.5 | 0.00 | ||
abnormal embryo size | Ptpn12tm1b(NCOM)Mfgc | HET | E9.5 | 0.00 | ||
abnormal embryo size | Ptpn12tm1b(NCOM)Mfgc | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Ptpn12tm1b(NCOM)Mfgc | HOM | Early adult | 0.00 | ||
abnormal pericardium morphology | Ptpn12tm1b(NCOM)Mfgc | HOM | E9.5 | 0.00 | ||
embryonic growth retardation | Ptpn12tm1b(NCOM)Mfgc | HOM | E9.5 | 0.00 | ||
edema | Ptpn12tm1b(NCOM)Mfgc | HOM | E9.5 | 0.00 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Axial skeleton | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | heterozygote | 40% (2 of 5) |
Central nervous system ganglion | N/A | heterozygote | 100% (2 of 2) |
Ear | N/A | heterozygote | 40% (2 of 5) |
Embryo | N/A | heterozygote | 100% (5 of 5) |
Eye | N/A | heterozygote | 40% (2 of 5) |
Footplate | N/A | heterozygote | 40% (2 of 5) |
Forebrain | N/A | heterozygote | 40% (2 of 5) |
Forelimb | N/A | heterozygote | 40% (2 of 5) |
Gut | N/A | heterozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 40% (2 of 5) |
Head | N/A | heterozygote | 40% (2 of 5) |
Heart | N/A | heterozygote | 40% (2 of 5) |
Hindbrain | N/A | heterozygote | 40% (2 of 5) |
Hindlimb | N/A | heterozygote | 40% (2 of 5) |
Liver | N/A | heterozygote | 40% (2 of 5) |
Lung | N/A | heterozygote | 40% (2 of 5) |
Mandibular process | N/A | heterozygote | 40% (2 of 5) |
Maxillary process | N/A | heterozygote | 40% (2 of 5) |
Midbrain | N/A | heterozygote | 40% (2 of 5) |
Nose | N/A | heterozygote | 100% (2 of 2) |
Oral cavity | N/A | heterozygote | 40% (2 of 5) |
Skeleton | N/A | heterozygote | 100% (2 of 2) |
Skin | N/A | heterozygote | 40% (2 of 5) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Tail somite | N/A | heterozygote | 40% (2 of 5) |
Tail | N/A | heterozygote | 40% (2 of 5) |
Trachea | N/A | heterozygote | 100% (2 of 2) |
Urinary system | N/A | heterozygote | 100% (2 of 2) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
axial skeleton | Ambiguous |
brain | 0.0% |
central nervous system ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
footplate | 0.0% |
forebrain | 0.0% |
forelimb | 0.0% |
gut | Ambiguous |
handplate | 0.0% |
head | 0.0% |
heart | 0.0% |
hindbrain | 0.0% |
hindlimb | 0.0% |
liver | 0.0% |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
midbrain | 0.0% |
nose | Ambiguous |
oral cavity | 0.0% |
skeleton | Ambiguous |
skin | 0.0% |
spinal cord | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
trachea | Ambiguous |
urinary system | Ambiguous |
Human diseases caused by Ptpn12 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 Ptpn12 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Colorectal Cancer | OMIM:114500 |
The table below shows human diseases predicted to be associated to Ptpn12 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Preeclampsia/Eclampsia 1 | Intrauterine growth retardation, Edema | OMIM:189800 | |
Lymphatic Malformation 8 | Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... | OMIM:618773 | |
Lymphatic Malformation 7 | Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... | OMIM:617300 | |
Pulmonary Edema Of Mountaineers, Susceptibility To | Edema, Pulmonary edema | OMIM:178400 | |
Lymphangiectasia, Pulmonary, Congenital | Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... | OMIM:265300 | |
Lymphatic Malformation 6 | Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... | OMIM:616843 | |
Cardiac Valvular Dysplasia 1 | Ventricular septal defect, Left atrial enlargement, Edema, Tricuspid stenosis, Valvular pulmonary... | OMIM:212093 | |
Colorectal Cancer | OMIM:114500 |
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 Ptpn12
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 Ptpn12.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. | NPJ systems biology and applications (May 2021) | Ptpn12tm1b(NCOM)Mfgc | PMC8163790 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ptpn12tm1a(NCOM)Mfgc | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Ptpn12tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Ptpn12tm1(NCOM)Mfgc | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, ES Cells |
Ptpn12tm1b(NCOM)Mfgc | Reporter-tagged deletion allele (with selection cassette) | Mice, Tissue |
Ptpn12tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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