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Symbol
Name
ID
Tgfbr1
transforming growth factor, beta receptor I
MGI:98728
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Craniosynostosis
Micrognathia
Retrognathia
Malar flattening
Adenoma sebaceum
Bifid uvula
Cleft palate
Salivary gland neoplasm
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
Availability Mouse Genotype
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Nes-cre)1Atp/0  (conditional)

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
04/09/2024
MGI 6.23
The Jackson Laboratory