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Symbol
Name
ID
Tgfbr2
transforming growth factor, beta receptor II
MGI:98729
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Craniosynostosis
Dolichocephaly
Micrognathia
Retrognathia
Malar flattening
Long face
Narrow face
Adenoma sebaceum
Bifid uvula
Cleft palate
High palate
Narrow palate
Salivary gland neoplasm
Dental crowding
Downslanted palpebral fissures
Disease(s) Associated with TGFBR2
Loeys-Dietz syndrome 2
Lynch syndrome
Marfan syndrome

Mouse Phenotypes
abnormal fourth pharyngeal arch artery morphology
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 palate development
abnormal palatal mesenchymal cell proliferation
abnormal primary palate development
abnormal palatal shelf morphology
abnormal palatal shelf fusion at midline
palatal shelves fail to meet at midline
palatal shelf hypoplasia
abnormal palate morphology
abnormal hard palate morphology
abnormal soft palate morphology
abnormal soft palate muscle morphology
small levator veli palatini muscle
small tensor veli palatini muscle
cleft soft palate
cleft secondary palate
abnormal nasal septum morphology
Availability Mouse Genotype
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
Tg(KRT14-cre)52Smr/0  (conditional)
Tgfbr2tm1Karl/Tgfbr2tm1Karl
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Tgfbr2tm1Karl/Tgfbr2tm1Karl
Tg(AMELX-cre)A1Kul/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
04/16/2024
MGI 6.23
The Jackson Laboratory