Symbol Name ID |
Tgfbr1
transforming growth factor, beta receptor I MGI:98728 |
Darker colors indicate more annotations |
Human Phenotypes | Craniosynostosis |
Micrognathia |
Retrognathia |
Malar flattening |
Facial asymmetry |
Adenoma sebaceum |
Bifid uvula |
Cleft palate |
High palate |
Salivary gland neoplasm |
Downslanted palpebral fissures |
Disease(s) Associated with TGFBR1 | |||||||||||
Loeys-Dietz syndrome 1 | |||||||||||
Lynch syndrome |
Mouse Phenotypes | maxillary prominence hypoplasia |
abnormal medial nasal prominence morphology |
abnormal palatal shelf morphology |
palatal shelf hypoplasia |
cleft upper lip |
bilateral cleft upper lip |
unilateral cleft upper lip |
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Availability | Mouse Genotype | |||||||
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl Tg(Nes-cre)1Atp/0 (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 08/02/2024 MGI 6.24 |
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