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Gene: Tpx2 MGI:1919369

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Gene Summary

Name:
TPX2, microtubule-associated
Synonyms:
p100,  DIL2,  2610005B21Rik,  REPP86

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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
embryonic lethality prior to organogenesis Tpx2em1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Tpx2em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Forepaw

10 Images

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Electroretinography 3

Fundus file

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 Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Tpx2 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 Tpx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Bazex Syndrome
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Legius Syndrome
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... ORPHA:137605
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophageal neoplasm, Neoplasm of the ... ORPHA:44890
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Chronic otitis media, Lymphom... ORPHA:1572
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi... OMIM:610755
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Heliotro... ORPHA:221
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary carcinoma, Pituitary prolactin cell adenoma, Pitui... ORPHA:300385
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Le... ORPHA:139411
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Keratoconjunctivitis sicca, Xerostomia ORPHA:43393
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma, Intestinal obstruction OMIM:606764
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction ORPHA:97286
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... ORPHA:99889
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Ganglioneuroma, Adrenocorticotropi... ORPHA:251937
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Biliary cirrhosis, Xerostomia, Hepatitis, ... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia... ORPHA:227982
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Female hypogonad... ORPHA:91349
Sotos Syndrome
Small cell lung carcinoma, Neoplasm, Cryptorchidism, Cholesteatoma, Astrocytoma, Hemangioma, Hypo... ORPHA:821
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Igg4-Related Ophthalmic Disease
Thyroiditis, Keratitis, Retroperitoneal fibrosis, Lymphoma, Sialadenitis, Orchitis, Sinusitis, No... ORPHA:449563
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif... ORPHA:97685
Duplication Of The Pituitary Gland
Volvulus, Teratoma, Abnormal hypothalamus morphology, Cleft palate, Abnormal pituitary gland morp... ORPHA:314621

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 Tpx2

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 Tpx2.

No publications found that use IMPC mice or data for Tpx2.

Order Mouse and ES Cells

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
Tpx2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tpx2em1(IMPC)J Exon Deletion Mice
Tpx2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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