|
Symbol Name ID |
Tgfbr2
transforming growth factor, beta receptor II MGI:98729 |
| Darker colors indicate more annotations |
| Human Phenotypes | Craniosynostosis |
Dolichocephaly |
Micrognathia |
Retrognathia |
Malar flattening |
Absent distal phalanges |
Arachnodactyly |
Hammertoe |
Postaxial polydactyly |
Brachydactyly |
Syndactyly |
Metatarsus adductus |
Equinus calcaneus |
Protrusio acetabuli |
Genu recurvatum |
Joint contracture of the hand |
Limited elbow extension |
Mitral annular calcification |
Flexion contracture |
Camptodactyly |
Joint hypermobility |
Abnormal sternum morphology |
Pectus carinatum |
Pectus excavatum |
Kyphoscoliosis |
Scoliosis |
Back pain |
Spondylolisthesis |
Osteoporosis |
Premature osteoarthritis |
Neoplasm of the skeletal system |
| Disease(s) Associated with TGFBR2 | |||||||||||||||||||||||||||||||
| Loeys-Dietz syndrome 2 | |||||||||||||||||||||||||||||||
| Lynch syndrome | |||||||||||||||||||||||||||||||
| Marfan syndrome | |||||||||||||||||||||||||||||||
| pancreatic cancer |
| Mouse Phenotypes | abnormal craniofacial bone morphology |
abnormal cranium morphology |
small cranium |
abnormal neurocranium morphology |
absent frontal bone |
abnormal parietal bone morphology |
abnormal molar morphology |
abnormal enamel mineralization |
abnormal enamel morphology |
reduced enamel thickness |
abnormal tooth attrition |
abnormal mandible morphology |
absent mandibular angle |
small mandibular condyloid process |
small mandibular coronoid process |
small mandible |
small maxilla |
abnormal tracheal cartilage morphology |
decreased tracheal cartilage ring number |
kyphosis |
abnormal cartilage morphology |
|
| Availability | Mouse Genotype | |||||||||||||||||||||
| Tgfbr2tm1.1Hcd/Tgfbr2+ | ||||||||||||||||||||||
| Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm Twist2tm1(cre)Dor/Twist2+ (conditional) |
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| Tgfbr2tm1Karl/Tgfbr2tm1Karl H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Tgfbr2tm1Karl/Tgfbr2tm1Karl Tg(AMELX-cre)A1Kul/0 (conditional) |
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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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