Phenotypes Associated with This Genotype

Genotype
MGI:5009542

• Allelic Composition: Tg(Rbp3-SV40)IT-2Jjw/?
• Genetic Background: involves: BALB/c * C57BL/6

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

neoplasm

increased pineal gland tumor incidence ( J:60231 )

• 25% of mice develop midbrain tumors

• by 2 weeks of age the pineal gland is replaced by tumor cells that resemble a highly differentiated retinoblastoma in 2 week old mice

• cells are large and atypical with numerous abnormal mitotic figures

• tumor cells form Homer Wright rosettes

• by 8-10 weeks of age tumors cover and invade the cerebral and cerebellar hemispheres

increased retinoblastoma incidence ( J:60231 )

• mice develop ocular tumors of photoreceptor cell origin

• beginning at 4 weeks of age, photoreceptor cells are replaced by hyperchromatic cells of small size with scanty cytoplasm

• by 10 weeks of age tumors invade the optic nerve, ciliary body, iris and vitreous

vision/eye

cataract ( J:60231 )

• 4 week old mice exhibit cataracts

exophthalmos ( J:60231 )

• mice develop exophthalmia by 8 weeks of age

abnormal retina morphology ( J:60231 )

• mice exhibit narrowing of the ocular fissures by 3 to 4 weeks of age

• beginning in the inner nuclear layer, neoplastic cells invade the bipolar layer of the retina by 6-8 weeks of age

increased retinoblastoma incidence ( J:60231 )

• mice develop ocular tumors of photoreceptor cell origin

• beginning at 4 weeks of age, photoreceptor cells are replaced by hyperchromatic cells of small size with scanty cytoplasm

• by 10 weeks of age tumors invade the optic nerve, ciliary body, iris and vitreous

endocrine/exocrine glands

enlarged pineal gland ( J:60231 )

• pineal gland is consistently enlarged by 5 to 6 weeks of age

• pineal gland is replaced by tumor cells

increased pineal gland tumor incidence ( J:60231 )

• 25% of mice develop midbrain tumors

• by 2 weeks of age the pineal gland is replaced by tumor cells that resemble a highly differentiated retinoblastoma in 2 week old mice

• cells are large and atypical with numerous abnormal mitotic figures

• tumor cells form Homer Wright rosettes

• by 8-10 weeks of age tumors cover and invade the cerebral and cerebellar hemispheres

nervous system

enlarged pineal gland ( J:60231 )

• pineal gland is consistently enlarged by 5 to 6 weeks of age

• pineal gland is replaced by tumor cells

increased pineal gland tumor incidence ( J:60231 )

• 25% of mice develop midbrain tumors

• by 2 weeks of age the pineal gland is replaced by tumor cells that resemble a highly differentiated retinoblastoma in 2 week old mice

• cells are large and atypical with numerous abnormal mitotic figures

• tumor cells form Homer Wright rosettes

• by 8-10 weeks of age tumors cover and invade the cerebral and cerebellar hemispheres

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinoblastoma		DOID:768	OMIM:180200	J:60231