Symbol Name ID |
Tgfbr2
transforming growth factor, beta receptor II MGI:98729 |
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 |
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Availability | Mouse Genotype | ||||||||
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm Tg(KRT14-cre)52Smr/0 (conditional) |
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Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm A1cfTg(Myh6-cre/Esr1*)1Jmk/A1cf+ (conditional) |
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Tgfbr2tm1Karl/Tgfbr2tm1Karl H2az2Tg(Wnt1-cre)11Rth/H2az2+ (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 04/16/2024 MGI 6.23 |
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