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Symbol
Name
ID
B3gat3
beta-1,3-glucuronyltransferase 3
MGI:1919977
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Brachycephaly
Craniosynostosis
Micrognathia
Microretrognathia
Short neck
Genu valgum
Broad distal phalanges of all fingers
Spatulate thumbs
Hallux valgus
Sandal gap
Metatarsus adductus
Enlarged metaphyses
Flared metaphysis
Dislocated radial head
Radioulnar synostosis
Metacarpophalangeal joint hyperextensibility
Hip dislocation
Knee dislocation
Bilateral elbow dislocations
Elbow flexion contracture
Rhizomelia
Joint hypermobility
Accelerated skeletal maturation
Delayed skeletal maturation
Recurrent fractures
Shoulder dislocation
11 pairs of ribs
Pectus carinatum
Narrow chest
Scoliosis
Platyspondyly
Osteopenia
Osteoporosis
Generalized osteoporosis
Multiple joint dislocation
Disease(s) Associated with B3GAT3
Larsen-like syndrome B3GAT3 type

Mouse Phenotypes
short femur
short tibia
Availability Mouse Genotype
B3gat3m1Btlr/B3gat3m1Btlr
B3gat3m2Btlr/B3gat3m2Btlr

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory