Not currently registered for phenotyping at IMPC

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

Gene Summary

exostosin glycosyltransferase 2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Multiple Osteochondromas
Arthritis, Abnormal bone structure, Limited hip movement, Limitation of joint mobility, Abnormal ... ORPHA:321
Seizures-Scoliosis-Macrocephaly Syndrome
Reduced bone mineral density ORPHA:466926
Potocki-Shaffer Syndrome
Decreased skull ossification ORPHA:52022
Exostoses, Multiple, Type Ii
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome

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

Disease Similarity of
Matching phenotypes Source
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:218300
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Camurati-Engelmann Disease, Type 2
Hyperostosis, Hip contracture, Knee flexion contracture, Osteopenia OMIM:606631
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Limited elbow extension, Hyperostosis OMIM:604922
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis OMIM:614441
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Hyperostosis, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Osteolysis ORPHA:324964
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Multiple enchondromatosis, Osteolysis ORPHA:296
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones OMIM:114000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Subperiosteal bone formation OMIM:211900
Sapho Syndrome
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... ORPHA:793
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Hyperostosis, Generalized bone demineralization ORPHA:73230
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage, Osteoarthritis, Arthritis, Limitation of joint mobility ORPHA:1416
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna OMIM:144800
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology, Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossif... ORPHA:93284
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Facial hyperostosis OMIM:176920
Hypophosphatemic Rickets
Fibrous dysplasia of the bones, Rickets, Hyperostosis, Patchy variation in bone mineral density, ... ORPHA:437
Familial Tumoral Calcinosis
Hyperostosis ORPHA:53715
Proteus-Like Syndrome
Hyperostosis ORPHA:2969
Oculodentodigital Dysplasia
Cranial hyperostosis, Hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger ORPHA:2710
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Abnormal cartilage matrix OMIM:245650
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Juvenile Paget Disease
Cranial hyperostosis, Recurrent fractures, Osteoporosis, Coarse metaphyseal trabecularization ORPHA:2801
Sturge-Weber Syndrome
Hyperostosis ORPHA:3205
Hyperostosis Cranialis Interna
Calvarial hyperostosis, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull OMIM:144755
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bone structure, Epiphysea... ORPHA:86822
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Kniest Dysplasia
Hip contracture, Delayed epiphyseal ossification, Abnormal cartilage collagen, Limitation of join... OMIM:156550
Camurati-Engelmann Disease
Craniofacial osteosclerosis, Hyperostosis, Cortical thickening of long bone diaphyses, Limitation... ORPHA:1328
Wiskott-Aldrich Syndrome
Hyperostosis, Arthritis ORPHA:906
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage matrix, Abnormal cartilage morphology ORPHA:2347
Weismann-Netter Syndrome
Calvarial hyperostosis OMIM:112350
Kniest Dysplasia
Laryngotracheomalacia, Delayed epiphyseal ossification, Abnormal bone structure, Fused cervical v... ORPHA:485
Cartilage destruction, Arthritis, Reduced bone mineral density, Calcification of cartilage, Joint... ORPHA:56
Proteus Syndrome
Calvarial hyperostosis, Hyperostosis, Craniosynostosis, Joint stiffness ORPHA:744
Moderate Hemophilia A
Synovitis, Hip contracture, Joint hemorrhage, Cartilage destruction, Limitation of joint mobility ORPHA:169805
Juvenile Idiopathic Arthritis
Joint stiffness, Cartilage destruction, Arthritis ORPHA:92
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis ORPHA:77296
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Calvarial hyperostosis, Osteopenia OMIM:612714
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Bone cyst, Craniofacial hyperostosis, Osteolysis ORPHA:2396
Adult-Onset Still Disease
Cartilage destruction, Arthritis ORPHA:829
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis ORPHA:457240
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes OMIM:256050
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis OMIM:601345
Reactive Arthritis
Arthritis, Cartilage destruction, Osteomyelitis, Joint stiffness, Enthesitis ORPHA:29207
Keutel Syndrome
Calcification of cartilage ORPHA:85202
Multiple Osteochondromas
Arthritis, Abnormal bone structure, Limited hip movement, Limitation of joint mobility, Abnormal ... ORPHA:321
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Cranial hyperostosis OMIM:612918
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Oculodentodigital Dysplasia
Vertebral hyperostosis, Joint contracture of the 5th finger OMIM:164200
Alpha-Mannosidosis, Infantile Form
Cortical thickening of long bone diaphyses, Joint laxity, Craniosynostosis, Osteopenia, Joint sti... ORPHA:309282
Lead Poisoning
Cranial hyperostosis ORPHA:330015
Seizures-Scoliosis-Macrocephaly Syndrome
Reduced bone mineral density ORPHA:466926
Potocki-Shaffer Syndrome
Decreased skull ossification ORPHA:52022
Exostoses, Multiple, Type Ii
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome


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.

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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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