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Phenotypes Associated with This Genotype
Genotype
MGI:5521547
Allelic
Composition
Rb1tm3Tyj/Rb1tm3Tyj
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Tg(tetO-RNAi:Trp53)ASlowe/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1tm3Tyj mutation (10 available); any Rb1 mutation (106 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (2 available)
Tg(tetO-RNAi:Trp53)ASlowe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants have a median survival of 401 days

neoplasm
• 85.72% of mice show metastatic dissemination, commonly to the lung and liver
• high degrees of mineralization are apparent in primary and metastatic lesions
• mutants develop osteosarcoma with a mean latency of 401 days
• 42.9% of tumors are found on the lower long bones, 42.9% of tumors are found on the mandible/head, and 14.3% of tumors are in other axial locations
• osteosarcoma is characterized by a uniform heavily mineralized osteoblastic (well differentiated) appearance in both primary and metastatic sites and osteosarcomas fail to become adipogenic under inductive conditions, indicating a cell population that is osteoblast restricted
• tumors resemble human osteoblastic osteosarcoma
• osteosarcomas exhibit clonal cytogenic abnormalities and karyotypic complexity; most frequent changes are recurrent gains of chromosomes 14 and 15 and loss of chromosomes 3, 7, and 12, as well as inter-chromosomal rearrangement involving chromosomes 6, 8, and 15
• however, nonosteoblastic lineage sarcomas or hibernomas are not seen in mutants

homeostasis/metabolism
• increase in serum alkaline phosphatase levels

skeleton
• mutants develop osteosarcoma with a mean latency of 401 days
• 42.9% of tumors are found on the lower long bones, 42.9% of tumors are found on the mandible/head, and 14.3% of tumors are in other axial locations
• osteosarcoma is characterized by a uniform heavily mineralized osteoblastic (well differentiated) appearance in both primary and metastatic sites and osteosarcomas fail to become adipogenic under inductive conditions, indicating a cell population that is osteoblast restricted
• tumors resemble human osteoblastic osteosarcoma
• osteosarcomas exhibit clonal cytogenic abnormalities and karyotypic complexity; most frequent changes are recurrent gains of chromosomes 14 and 15 and loss of chromosomes 3, 7, and 12, as well as inter-chromosomal rearrangement involving chromosomes 6, 8, and 15
• however, nonosteoblastic lineage sarcomas or hibernomas are not seen in mutants

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteosarcoma DOID:3347 OMIM:259500
J:199542


Contributing Projects:
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
03/19/2024
MGI 6.23
The Jackson Laboratory