Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
exostosin glycosyltransferase 1
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ext1 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 Ext1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chondrosarcoma
Chondrosarcoma OMIM:215300
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Multiple Osteochondromas
Scapular exostoses, Rib exostoses, Osteochondroma, Chondrosarcoma ORPHA:321
Trichorhinophalangeal Syndrome Type 2
Multiple long-bone exostoses, Exostoses ORPHA:502

The table below shows human diseases predicted to be associated to Ext1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exostoses, Multiple, Type Iii
Multiple exostoses OMIM:600209
Exostoses Of Heel
Exostoses OMIM:133600
Osteoma Of Middle Ear
Osteoma OMIM:259650
Chordoma, Susceptibility To
Astrocytoma, Chordoma OMIM:215400
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Multiple Exostoses With Spastic Tetraparesis
Multiple exostoses OMIM:158345
Osteomas Of Mandible
Osteoma OMIM:166400
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Genochondromatosis Type 1
Multiple enchondromatosis ORPHA:85197
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
B-cell lymphoma, Burkitt lymphoma, Osteochondroma OMIM:620232
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Czech Dysplasia
Osteochondroma OMIM:609162
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Tolchin-Le Caignec Syndrome
Cardiac rhabdomyoma, Osteochondroma OMIM:618971
Multiple Osteochondromas
Scapular exostoses, Rib exostoses, Osteochondroma, Chondrosarcoma ORPHA:321
Oslam Syndrome
Osteosarcoma ORPHA:2760
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Trichorhinophalangeal Syndrome, Type Ii
Multiple long-bone exostoses, Rib exostoses, Osteochondroma, Osteoma, Scapular exostoses OMIM:150230
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma OMIM:601811
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Pallister-Hall Syndrome
Midline facial capillary hemangioma, Hypothalamic hamartoma, Osteochondroma ORPHA:672
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Werner Syndrome
Meningioma, Osteosarcoma OMIM:277700
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Cutaneous myxoma, Testicular neoplasm, Neoplasm of the breast, Osteosarcoma ORPHA:249
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Melanoma, Squamous cell carcinoma, Leukemia... ORPHA:221016
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys... ORPHA:221008
Diamond-Blackfan Anemia 21
Osteosarcoma OMIM:620072
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma OMIM:268400
Diamond-Blackfan Anemia
Malignant genitourinary tract tumor, Acute myeloid leukemia, Adenocarcinoma of the colon, Myelody... ORPHA:124
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Neoplasm of the thyroid gland, Neo... ORPHA:79474
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Myelodysplasia, Colon cancer, Osteosarcoma OMIM:105650
Trichorhinophalangeal Syndrome Type 2
Multiple long-bone exostoses, Exostoses ORPHA:502

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 Ext1

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 Ext1.

No publications found that use IMPC mice or data for Ext1.

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
Ext1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ext1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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