|
Symbol Name ID |
B3glct
beta-3-glucosyltransferase MGI:2685903 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Craniosynostosis |
Micrognathia |
Hypoplasia of the maxilla |
Microcephaly |
Macrocephaly |
Wide anterior fontanel |
Short neck |
Clinodactyly of the 5th finger |
Proximal placement of thumb |
Short toe |
Brachydactyly |
Syndactyly |
Short metatarsal |
Short foot |
Short metacarpal |
Short palm |
Limited elbow movement |
Rhizomelia |
Joint hypermobility |
Abnormal pelvic girdle bone morphology |
Square pelvis bone |
Pectus excavatum |
Scoliosis |
Hemivertebrae |
| Disease(s) Associated with B3GLCT | |||||||||||||||||||||||||
| Peters plus syndrome |
| Mouse Phenotypes | short basicranium |
abnormal cranium size |
increased cranium height |
increased cranium width |
abnormal neurocranium morphology |
wide frontal bone |
short frontal bone |
abnormal sphenoid bone morphology |
enlarged neurocranium |
abnormal nasal bone morphology |
broad nasal bone |
short facial bone |
abnormal skeleton morphology |
decreased long bone epiphyseal plate size |
decreased length of long bones |
abnormal intramembranous bone ossification |
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| Availability | Mouse Genotype | ||||||||||||||||
| B3glcttm1.2Nari/B3glcttm1.2Nari | |||||||||||||||||
| B3glcttm1b(KOMP)Wtsi/B3glcttm1b(KOMP)Wtsi | |||||||||||||||||
| B3glcttm1d(KOMP)Wtsi/B3glcttm1d(KOMP)Wtsi | |||||||||||||||||
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 04/09/2024 MGI 6.23 |
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