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Gene: Ext2 MGI:108050

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
exostosin glycosyltransferase 2
Synonyms:
N/A

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IMPC Data Collections

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

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.

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 Ext2 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 Ext2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Osteochondromas
Limitation of joint mobility, Abnormal cartilage morphology, Arthritis, Limited hip movement, Lim... ORPHA:321
Seizures-Scoliosis-Macrocephaly Syndrome
Reduced bone mineral density ORPHA:466926
Potocki-Shaffer Syndrome
Decreased skull ossification ORPHA:52022
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Reduced bone mineral density OMIM:616682
Exostoses, Multiple, Type Ii
Cervical myelopathy OMIM:133701

The table below shows human diseases predicted to be associated to Ext2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Hyperostosis, Knee flexion contracture OMIM:606631
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis OMIM:614441
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis ORPHA:324964
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis, Joint stiffness ORPHA:296
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Subperiosteal bone formation OMIM:211900
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hyperostosis, Generalized bone demineralization, Abnormal bone ossification ORPHA:73230
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... ORPHA:793
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Familial Calcium Pyrophosphate Deposition
Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage ORPHA:1416
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Proteus-Like Syndrome
Hyperostosis ORPHA:2969
Familial Tumoral Calcinosis
Hyperostosis ORPHA:53715
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Abnormal cartilage matrix OMIM:245650
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Juvenile Paget Disease
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:2801
Sturge-Weber Syndrome
Hyperostosis ORPHA:3205
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bon... ORPHA:86822
Hyperostosis Cranialis Interna
Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyperostosis cranialis interna OMIM:144755
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Craniofacial osteosclerosis, Limitation of joint mobi... ORPHA:1328
Wiskott-Aldrich Syndrome
Hyperostosis, Arthritis ORPHA:906
Craniometaphyseal Dysplasia, Autosomal Dominant
Sclerosis of skull base, Cranial hyperostosis, Calvarial osteosclerosis OMIM:123000
Weismann-Netter Syndrome
Calvarial hyperostosis OMIM:112350
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Fused cervical vertebrae, Anterior vertebral fu... ORPHA:485
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Kniest Dysplasia
Hip contracture, Abnormal cartilage collagen, Delayed epiphyseal ossification, Limitation of join... OMIM:156550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Calvarial hyperostosis OMIM:612714
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis ORPHA:77296
Proteus Syndrome
Calvarial hyperostosis, Hyperostosis, Craniosynostosis, Joint stiffness ORPHA:744
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures ORPHA:52430
Alkaptonuria
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... ORPHA:56
Moderate Hemophilia A
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage ORPHA:169805
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis ORPHA:457240
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis ORPHA:2396
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Adult-Onset Still Disease
Cartilage destruction, Arthritis ORPHA:829
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes OMIM:256050
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis OMIM:601345
Keutel Syndrome
Calcification of cartilage ORPHA:85202
Multiple Osteochondromas
Limitation of joint mobility, Abnormal cartilage morphology, Arthritis, Limited hip movement, Lim... ORPHA:321
Hurler Syndrome
Calvarial hyperostosis, Flexion contracture, Cranial hyperostosis, Joint stiffness OMIM:607014
Reactive Arthritis
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis ORPHA:29207
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Co... ORPHA:309282
Lead Poisoning
Cranial hyperostosis ORPHA:330015
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Vertebral hyperostosis OMIM:164200
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Cranial hyperostosis OMIM:612918
Seizures-Scoliosis-Macrocephaly Syndrome
Reduced bone mineral density ORPHA:466926
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Wide anterior fontanel, Elbow flexion contracture, Knee flexion contracture, Abnormal calcificati... OMIM:271665
Potocki-Shaffer Syndrome
Decreased skull ossification ORPHA:52022
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Reduced bone mineral density OMIM:616682
Exostoses, Multiple, Type Ii
Cervical myelopathy OMIM:133701

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 Ext2

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 Ext2.

No publications found that use IMPC mice or data for Ext2.

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
Ext2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ext2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ext2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ext2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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