RASopathies

The RASopathies are a group of genetic syndromes caused by mutations in genes of the Ras-MAPK pathway. Individual RASopathies are rare but as a group, they are among the most common genetic conditions. Common features of RASopathies are intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities. Other frequent symptoms involve short stature and other postcranial skeletal defects. RASopathies can also increase the risk of cancer outbreak. More info

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Pathogenic mechanism

The Ras/MAPK pathway plays an essential role in regulating the cell cycle and cellular growth, differentiation, and senescence, all of which are critical for normal development. The RASopathies are caused by germline mutations in one of the  genes involved in this pathway. Among the causative genes belong KRAS, HRAS, NRAS, NF1, PTPN11, MAPK1 and others. There are usually multiple mutation hotspots at each gene and these mutations can be both dominant and recessive. 

• B6.129S6-Kras^tm1Kshn/J (point mutation T58I in Kras, Noonan syndrome model)
• B6.129S6-Kras^tm2Kshn/J (point mutation P34R in Kras, Cardiofaciocutaneous syndrome model)
• B6.129S6(Cg)-Ptpn11^tm4.2Bgn/FcrJ (point mutation Y279C in Ptpn11, LEOPARD syndrome model)