Symbol Name ID |
Tgfbr1
transforming growth factor, beta receptor I MGI:98728 |
Darker colors indicate more annotations |
Human Phenotypes | Craniosynostosis |
Micrognathia |
Retrognathia |
Malar flattening |
Postaxial hand polydactyly |
Arachnodactyly |
Postaxial polydactyly |
Flexion contracture |
Camptodactyly |
Joint hypermobility |
Supernumerary ribs |
Abnormal sternum morphology |
Pectus carinatum |
Pectus excavatum |
Scoliosis |
Cervical spine instability |
Spondylolisthesis |
Neoplasm of the skeletal system |
Disease(s) Associated with TGFBR1 | ||||||||||||||||||
Loeys-Dietz syndrome 1 | ||||||||||||||||||
Lynch syndrome |
Mouse Phenotypes | increased chondrocyte apoptosis |
osteoarthritis |
kyphosis |
osteophytes |
abnormal cartilage development |
abnormal articular cartilage morphology |
abnormal synovial joint morphology |
premature cranial suture closure |
premature coronal suture closure |
premature lambdoid suture closure |
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Availability | Mouse Genotype | ||||||||||
Tgfbr1R244Q/Tgfbr1R244Q | |||||||||||
Tgfbr1R244Q/Tgfbr1+ | |||||||||||
Tgfbr1tm1.1Hcd/Tgfbr1+ | |||||||||||
Tg(Col2a1-cre/ERT2)1Dic/0 Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl (conditional) |
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 05/14/2024 MGI 6.23 |
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