Phenotypes Associated with This Genotype

Genotype
MGI:5517703

• Allelic Composition: Tg(Pax6-TAg)1796Hur/0
• Genetic Background: involves: FVB

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

neoplasm

increased eye tumor incidence ( J:196814 )

• 100% of mutants develop retinal and lens tumors by E12.5, that rapidly progress throughout fetal and postnatal life

increased retinoblastoma incidence ( J:196814 )

• retinal-derived tumors invade the choroid and metastasize through the optic nerve to the brain

• a subpopulation of retinal tumor cells that express CD133 are capable of forming heterogeneous tumors similar to the primary retinal tumor when transplanted in vivo

vision/eye

increased eye tumor incidence ( J:196814 )

• 100% of mutants develop retinal and lens tumors by E12.5, that rapidly progress throughout fetal and postnatal life

increased retinoblastoma incidence ( J:196814 )

• retinal-derived tumors invade the choroid and metastasize through the optic nerve to the brain

• a subpopulation of retinal tumor cells that express CD133 are capable of forming heterogeneous tumors similar to the primary retinal tumor when transplanted in vivo

abnormal retina development ( J:196814 )

• no evidence of retinal differentiation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinoblastoma		DOID:768	OMIM:180200	J:196814