Phenotypes Associated with This Genotype

Genotype
MGI:3707433

• Allelic Composition: Rb1^tm3Tyj/Rb1^tm3Tyj; Rbl1^tm1Tyj/Rbl1^tm1Tyj; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB/N

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

neoplasm

increased retinoblastoma incidence ( J:119919 )

• in 61% of mice visible unilateral retinoblastoma develop with delayed and variable kinetics appearing on average by 208 +/- 17 days relative to mice lacking Rbl2

• unlike mice lacking Rbl2, bilateral visible retinoblastomas are rare

• however, 3 of 11 retinas from mice with unilateral tumors in the opposite eye contain early retinoblastomas with mitotic figures and Homer-Wright rosettes

• at P60 4 of 14 eyes have retinoblastomas at level of the optic nerve head in the extreme periphery of the retina

vision/eye

abnormal retina morphology ( J:119919 )

• in 11 of 11 mice with unilateral tumors, the retina in the tumor free eye is disorganized and degenerated

• at P31 6 of 24 retinas have dysplastic lesions containing Homer-Wright rosettes at the level of the optic nerve in the extreme periphery and increased proliferation in the periphery without histological evidence of retinoblastoma

increased retinoblastoma incidence ( J:119919 )

• in 61% of mice visible unilateral retinoblastoma develop with delayed and variable kinetics appearing on average by 208 +/- 17 days relative to mice lacking Rbl2

• unlike mice lacking Rbl2, bilateral visible retinoblastomas are rare

• however, 3 of 11 retinas from mice with unilateral tumors in the opposite eye contain early retinoblastomas with mitotic figures and Homer-Wright rosettes

• at P60 4 of 14 eyes have retinoblastomas at level of the optic nerve head in the extreme periphery of the retina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinoblastoma		DOID:768	OMIM:180200	J:119919