Phenotypes Associated with This Genotype

Genotype
MGI:2653473

• Allelic Composition: Cdkn2a^tm1Rdp/Cdkn2a^tm1Rdp; Tg(Mt1-Hgf)19Lmb/0
• Genetic Background: involves: 129/Sv * C57BL/6J * FVB/N * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

neoplasm

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 rhabdomyosarcoma incidence ( 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

increased melanoma incidence ( J:79704 )

• 2 of 34 mutants develop malignant melanoma

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

increased rhabdomyosarcoma incidence ( 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rhabdomyosarcoma		DOID:3247		J:79704