tumorigenesis

increased tumor incidence ( J:79704 )

• alpha-actin positive neoplasms arise also at ectopic non-skeletal muscle sites, such as cerebellum, pituitary, esophagus, pancreas and stomach

increased melanoma incidence ( J:79704 )

• 2 of 34 mutants develop malignant melanoma

rhabdomyosarcoma ( J:79704 )

• mutants develop malignant rhabdomyosarcoma arising from trunk and limb skeletal muscle with high penetrance and short latency

• mean age of onset of 3.3 months

muscle

abnormal myogenesis ( J:79704 )

• myogenic precursors (satellite cells) cultured in fusion media remain poorly differentiated, indicating blocked myogenesis

increased satellite cell number ( J:79704 )

• earlier appearance of hyperplastic satellite cells in skeletal muscle

Mouse Models of Human Disease		OMIM ID	Ref(s)
Rhabdomyosarcoma 1; RMS1		268210	J:79704