Phenotypes Associated with This Genotype

Genotype
MGI:5649275

• Allelic Composition: Gt(ROSA)26Sor^{tm5(ASPSCR1/TFE3)Mrc}/Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

neoplasm

increased tumor incidence ( J:217462 )

• mice develop a tumor within the skull between 3 and 6 months of age; tumors are found primarily in the brain parenchyma, but also in the choroid plexus and orbit

increased sarcoma incidence ( J:217462 )

• tumors show characteristic nests of polygonal cells with an open chromatin pattern, surrounded by neatly arcading capillary and larger vascular channels, resembling alveolar soft part sarcoma

• tumors often arise in or near the leptomeninges, along sulci

• some tumors show aggressive invasive growth, with extensions of tumor cells into the cerebellum, cerebrum, and the vessels of the choroid plexus

• mice do not develop tumors in the skeletal muscle

• tumors form in the areas highest in lactate, the cranial vault, express high levels of lactate importers, have abundant mitochondria, metabolize lactate as a metabolic substrate, and respond to exogenous lactate administration with increased cell proliferation and angiogenesis

craniofacial

enlarged occipital bone ( J:217462 )

• mice often exhibit enlargement of the occipital bone from the inner soft tissue expansion

skeleton

enlarged occipital bone ( J:217462 )

• mice often exhibit enlargement of the occipital bone from the inner soft tissue expansion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alveolar soft part sarcoma		DOID:4239	OMIM:606243	J:217462