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
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Pelvic bone exostoses, Rib exostoses OMIM:133700
Multiple Osteochondromas
Chondrosarcoma, Scapular exostoses, Osteochondroma, Rib exostoses ORPHA:321
Trichorhinophalangeal Syndrome Type 2
Exostoses, Multiple long-bone 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
Osteoid Osteoma
Osteoma, Osteoid osteoma OMIM:259550
Exostoses Of Heel
Exostoses OMIM:133600
Osteoma Of Middle Ear
Osteoma OMIM:259650
Chordoma, Susceptibility To
Chordoma OMIM:215400
Choroidal Osteoma, Bilateral
Osteoma OMIM:118865
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
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, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Genochondromatosis Type 1
Multiple enchondromatosis ORPHA:85197
Metachondromatosis
Exostoses, Multiple enchondromatosis ORPHA:2499
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Metachondromatosis
Multiple digital exostoses, Multiple enchondromatosis OMIM:156250
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis, Multiple exostoses OMIM:175450
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Oslam Syndrome
Osteosarcoma, Neoplasm OMIM:165660
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Pelvic bone exostoses, Rib exostoses OMIM:133700
Czech Dysplasia
Osteochondroma OMIM:609162
Tolchin-Le Caignec Syndrome
Osteochondroma, Cardiac rhabdomyoma OMIM:618971
Multiple Osteochondromas
Chondrosarcoma, Scapular exostoses, Osteochondroma, Rib exostoses ORPHA:321
Oslam Syndrome
Osteosarcoma ORPHA:2760
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Neoplasm OMIM:601811
Retinoblastoma
Ewing sarcoma, Leukemia, Lymphoma, Pinealoma, Osteosarcoma, Retinoblastoma OMIM:180200
Oncogenic Osteomalacia
Giant cell tumor of bone, Carcinoma, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neop... ORPHA:352540
Pallister-Hall Syndrome
Hypothalamic hamartoma, Osteochondroma, Midline facial capillary hemangioma ORPHA:672
Werner Syndrome
Osteosarcoma, Meningioma OMIM:277700
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma OMIM:112250
Retinoblastoma
Ewing sarcoma, Leukemia, Rhabdomyosarcoma, Melanoma, Lymphoma, Osteosarcoma, Leiomyosarcoma, Pine... ORPHA:790
Rothmund-Thomson Syndrome Type 2
Squamous cell carcinoma, Leukemia, Melanoma, Lymphoma, Osteosarcoma, Basal cell carcinoma, Neopla... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Squamous cell carcinoma, Leukemia, Melanoma, Osteosarcoma, Basal cell carcinoma, Neoplasm of the ... ORPHA:221008
Fibrous Dysplasia Of Bone
Neoplasm of the breast, Testicular neoplasm, Osteosarcoma, Cutaneous myxoma, Thyroid carcinoma ORPHA:249
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Rothmund-Thomson Syndrome, Type 2
Osteosarcoma, Squamous cell carcinoma, Basal cell carcinoma OMIM:268400
Blackfan-Diamond Anemia
Osteosarcoma, Acute myeloid leukemia, Adenocarcinoma of the colon, Myelodysplasia, Malignant geni... ORPHA:124
Atypical Werner Syndrome
Renal neoplasm, Neoplasm of the breast, Osteosarcoma, Meningioma, Ovarian neoplasm, Neoplasm of t... ORPHA:79474
Diamond-Blackfan Anemia 1
Osteosarcoma, Myelodysplasia, Colon cancer OMIM:105650
Trichorhinophalangeal Syndrome Type 2
Exostoses, Multiple long-bone 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.

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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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