Phenotypes Associated with This Genotype

Genotype
MGI:3851236

• Allelic Composition: Tg(Acta2-RAC1*G12V)33Pjgc/Tg(Acta2-RAC1*G12V)33Pjgc
• Genetic Background: involves: C57BL/6 * FVB/N

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

neoplasm

increased sarcoma incidence ( J:150015 )

• at 8 months mice develop discolored reddish lesions mainly on the tail unlike wild-type mice

• mice develop Kaposi-like tumors with excessive proliferation of spindle cells without identifiable organized vascular structures inside the tumors but with slits containing red blood cells and hemosiderin between cells unlike in wild-type mice

• tumors prevalence is more severe in older, males homozygotes

• female mice develop Kaposi-like sarcomas later in life (mean age 18 months)

• tumors cells are positive for Kaposi sarcoma phenotypic markers CD31 and CD34

• tumor cells secrete more IL6, IL8, TNF-alpha, MCP1, MIP1alpha, and KC than in smooth muscle cells

• tumors exhibit increased reactive oxygen species-mediated oxidative DNA damage compared to in wild-type cells

• tumors cells exhibit polyploidy and aneuploidy

• tumors exhibit a two-fold increase in reactive oxygen species production compared with wild-type cells

• tumor cell growth is inhibited by N-acetyl-cysteine and stimulated by hydrogen peroxide

• however, treatment with N-acetyl-cysteine prevents limits the development of tumors

immune system

abnormal chemokine secretion ( J:150015 )

• tumor cells secrete more MCP1, MIP1alpha, and KC than in smooth muscle cells

increased interleukin-6 secretion ( J:150015 )

• in tumor cells compared with smooth muscle cells

increased tumor necrosis factor secretion ( J:150015 )

• in tumor cells compared with smooth muscle cells

cellular

aneuploidy ( J:150015 )

• in tumor cells

polyploidy ( J:150015 )

• in tumor cells

oxidative stress ( J:150015 )

• tumors exhibit a two-fold increase in reactive oxygen species production compared with wild-type cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kaposi's sarcoma		DOID:8632		J:150015