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Phenotypes Associated with This Genotype
involves: BALB/c * C57BL/6
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phenotype observed in females
phenotype observed in males
N normal phenotype
• 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
• 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

• 4 week old mice exhibit cataracts
• mice develop exophthalmia by 8 weeks of age
• 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

endocrine/exocrine glands
• pineal gland is consistently enlarged by 5 to 6 weeks of age
• pineal gland is replaced by tumor cells

nervous system
• pineal gland is consistently enlarged by 5 to 6 weeks of age
• pineal gland is replaced by tumor cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinoblastoma; RB1 180200 J:60231

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory