Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rbl1+ wild type MGI:2433195 |
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| Summary |
8 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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IMPC - HMGU
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IMPC - HMGU
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IMPC - HMGU
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes are viable and fertile; no increased morbidity or mortality is observed up to 24 months of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice have much more aggressive, invasive form of retinoblastoma than Trp53-sufficient compound mutants, but onset is delayed compared to that observed in Rbl1 homozygous compound mutants
• tumor size varies with age and genotype
• mice show rapid filling of the vitreal cavity with densely packed tumor cells and rosettes; in the tumors, there is an overabundance of stage II retinoblastoma cells
• near outer surface of retina near tumor origin site, there are regions of plexus with synaptic densities and synaptic vesicles, indistinguishable from the Rb1;Rbl1 mutants that are wild-type for Trp53
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• significant disruptions in retinal morphology are observed by P12 to 13
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• significant disruptions in retinal morphology are observed by P12 to 13
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice with retinoblastoma tumors are characterized by pronounced loss of photoreceptor cells
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• 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
• tumors show appearance of unique populations of undifferentiated tumor-like cells, and extensive formation of plexiform regions
• in a large tumor that filled much of the vitreal space contained two cell types: some cells are stage I retinoblastoma cells with pale, round nuclei resembling differentiated neurons and always associated with a plexus or tightly-packed stage II retinoblastoma cells with irregular nuclei with little or no plexus associated with individual cells
• rosettes in retinoblastomas are usually composed of stage I cells with a central plexus, but are adjacent to clusters of stage II cells
• plexus regions of tumors show mitotic figures and apoptotic cells; plexus regions also contained synaptic densities and associated synaptic vesicles
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• 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 smaller areas of plexus in tumors
• processes are usually smaller in diameter (<0.5 um) but large ones of 1-3 um are observed occasionally; variety of synaptic arrangements occur and all types can be found in contacts among processes, while ribbon synapses are seen only in areas near photoreceptor cell bodies
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• significant disruptions in retinal morphology are observed by P12 to 13
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• 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
• tumors show appearance of unique populations of undifferentiated tumor-like cells, and extensive formation of plexiform regions
• in a large tumor that filled much of the vitreal space contained two cell types: some cells are stage I retinoblastoma cells with pale, round nuclei resembling differentiated neurons and always associated with a plexus or tightly-packed stage II retinoblastoma cells with irregular nuclei with little or no plexus associated with individual cells
• rosettes in retinoblastomas are usually composed of stage I cells with a central plexus, but are adjacent to clusters of stage II cells
• plexus regions of tumors show mitotic figures and apoptotic cells; plexus regions also contained synaptic densities and associated synaptic vesicles
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• mice with retinoblastoma tumors are characterized by pronounced loss of photoreceptor cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice have similar levels of apoptosis in the cerebella as Rb1, Rbl1 double mutants which express Trp53
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in apoptotic rate is seen at P15 in vermis of mutants; most apoptotic cells are found in the inner half of the external granule layer and in the inner granule layer; rate is similar at P30
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• at P15, number of proliferating granule cell precursors in external granule layer is higher than in controls
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• at P15, the vermis is considerably reduced in size, but less than when both Rbl1 alleles are lost
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• at P15, size reduction compared to wild-type cerebella is noticed
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• increase in apoptotic rate is seen at P15 in vermis of mutants; most apoptotic cells are found in the inner half of the external granule layer and in the inner granule layer; rate is similar at P30
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• at P15, number of proliferating granule cell precursors in external granule layer is higher than in controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• these mutant mice exhibit only a subtle and transient growth retardation from which they recover at 3 weeks of age
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| N |
• at 16.0-19.0 dpc, these mutant embryos display normal forelimb development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• similar to Rb1tm1Tyj heterozygotes, mice heterozygous for both Rb1tm1Tyj and Rbl1tm1Tyj die from tumors in the intermediate lobe of the pituitary gland at ~12 months of age
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• double heterozygotes develop large pituitary tumors of the intermediate lobe that are comparable to those arising in single Rb1tm1Tyj heterozygotes with respect to both incidence and size
• such pituitary tumors are shown to arise from cells in which the wild-type allele of Rb1 is absent, whereas the wild-type allele of Rbl1 is retained
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• double heterozygotes develop large pituitary tumors of the intermediate lobe that are comparable to those arising in single Rb1tm1Tyj heterozygotes with respect to both incidence and size
• such pituitary tumors are shown to arise from cells in which the wild-type allele of Rb1 is absent, whereas the wild-type allele of Rbl1 is retained
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• double heterozygotes develop large pituitary tumors of the intermediate lobe that are comparable to those arising in single Rb1tm1Tyj heterozygotes with respect to both incidence and size
• such pituitary tumors are shown to arise from cells in which the wild-type allele of Rb1 is absent, whereas the wild-type allele of Rbl1 is retained
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 03/18/2025 MGI 6.24 |
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