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Symbol
Name
ID
Tgfbr2
transforming growth factor, beta receptor II
MGI:98729
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Joint contracture of the hand
Flexion contracture
Camptodactyly
Hypertonia
Hypotonia
Decreased muscle mass
Rhabdomyosarcoma
Disease(s) Associated with TGFBR2
Loeys-Dietz syndrome 2
Lynch syndrome
Marfan syndrome
mismatch repair cancer syndrome

Mouse Phenotypes
dilated cardiomyopathy
decreased cardiac muscle contractility
abnormal vasodilation
abnormal soft palate muscle morphology
small levator veli palatini muscle
small tensor veli palatini muscle
abnormal skeletal muscle fiber morphology
centrally nucleated skeletal muscle fibers
Availability Mouse Genotype
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
Tg(KRT14-cre)52Smr/0  (conditional)
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
A1cfTg(Myh6-cre/Esr1*)1Jmk/A1cf+  (conditional)
Tgfbr2tm1Karl/Tgfbr2tm1Karl
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (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