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

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

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

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