Phenotypes Associated with This Genotype

Genotype
MGI:3710239

• Allelic Composition: Rb1^tm1Tyj/Rb1^tm2Brn; Rbl1^tm1Tyj/Rbl1^tm1Tyj; Trp53^tm1Brn/Trp53^tm1Tyj; Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL

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

vision/eye

increased retinoblastoma incidence ( J:120315 )

• retinoblastoma cells that express amacrine/horizontal cell markers also extend processes and form synapses; some of these Golgi-Cox-labeled cells extend 1-3 long main processes with further neurite branching characteristic of horizontal or wide-field amacrine cells, while more (nearly half of ) labeled cells extend a main process with extensive neurite outgrowth characteristic of amacrine cells, and the remaining cells are less differentiated with short, unbranched neurites

• these labeled cells are mainly found near the tumor origin, while fewer are present toward the lens and anterior chamber

abnormal eye anterior chamber morphology ( J:120315 )

• tumor cells that invade the anterior eye chamber beneath the cornea are densely packed stage II cells surrounded by sparse regions of plexus with no synaptic densities or vesiclesin in the plexus or rosettes of these cells

• tumor cells have abundant mitochondria and mitotic figures; some rosettes have a central plexus made up of large, undifferentiated processes, with other rosettes having a central plexus containing neurons and synapses

abnormal eye posterior chamber morphology ( J:120315 )

• areas of the plexus within the posterior chamber are composed of neuron-like processes having synaptic structures similar to horizontal/amacrine cells; this is seen in extensive plexus areas of tumors

neoplasm

increased retinoblastoma incidence ( J:120315 )

• retinoblastoma cells that express amacrine/horizontal cell markers also extend processes and form synapses; some of these Golgi-Cox-labeled cells extend 1-3 long main processes with further neurite branching characteristic of horizontal or wide-field amacrine cells, while more (nearly half of ) labeled cells extend a main process with extensive neurite outgrowth characteristic of amacrine cells, and the remaining cells are less differentiated with short, unbranched neurites

• these labeled cells are mainly found near the tumor origin, while fewer are present toward the lens and anterior chamber

cellular

abnormal cell proliferation ( J:120315 )

• a substantial proportion of tumor cells expressing amacrine/horizontal cell markers are proliferating as shown by labeled thymidine incorporation