Phenotypes Associated with This Genotype

Genotype
MGI:5009467

• Allelic Composition: Tg(TagRb)1Plm/?
• Genetic Background: involves: BALB/cJ * C57BL/6J

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

neoplasm

increased retinoblastoma incidence ( J:10320 )

• retinal tumors are first observed at 2 months of age

• tumors fill the vitreous cavity by 5-6 months of age

• tumors arise bilaterally with several foci

• tumor cells have a large hyperchromatic nucleus with minimum cytoplasm

• tumor cells have a triple nuclear membrane structure with central dense layer of either granular or fibrillar chromatin bounded on both sides by membrane

• tumor cells contain neurosecretory granules, cytoplasmic microtubules and cilia with a 9+0 pattern

vision/eye

increased retinoblastoma incidence ( J:10320 )

• retinal tumors are first observed at 2 months of age

• tumors fill the vitreous cavity by 5-6 months of age

• tumors arise bilaterally with several foci

• tumor cells have a large hyperchromatic nucleus with minimum cytoplasm

• tumor cells have a triple nuclear membrane structure with central dense layer of either granular or fibrillar chromatin bounded on both sides by membrane

• tumor cells contain neurosecretory granules, cytoplasmic microtubules and cilia with a 9+0 pattern

abnormal retina morphology ( J:10320 )

• perivascular cuffs of tumor cells surround retinal vessels with areas of necrosis and calcification

• tumors extend by vitreous seeding and local invasion from the inner retina (endophytic) and toward the choroid (exophytic)

abnormal retina photoreceptor morphology ( J:10320 )

• tumor cells undergo photoreceptor cell differentiation to form Flexner-Wintersteiner rosettes and Homer Wright rosettes characteristic of human retinoblastoma

nervous system

abnormal retina photoreceptor morphology ( J:10320 )

• tumor cells undergo photoreceptor cell differentiation to form Flexner-Wintersteiner rosettes and Homer Wright rosettes characteristic of human retinoblastoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinoblastoma		DOID:768	OMIM:180200	J:10320