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added fusion genes and mouse strains
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Delphine Zhou authored and Delphine Zhou committed Apr 18, 2024
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194 changes: 193 additions & 1 deletion TGEMO.OWL
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</owl:Class>


<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00184 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
<obo:IAO_0000115>There are two mouse models referred to by the name “PS2APP” to in the literature. This entry refers to the model that was generated by co-injecting two constructs into C57/BL/6 zygotes, and is also known by the name B6.152H. The other PS2APP line was generated by crossing two single transgenic animals (PS2(N141I) x APPswe) (Richards et al., 2003). Both lines of double transgenic animals express the same transgenes and both develop a similar level of cerebral pathology (Weidensteiner et al., 2009), but only the B6.152H mice show enhanced LTP. The reasons for this are not entirely clear, but differing levels of transgene expression may be partly responsible. B6.152H mice have higher expression of transgenic human APP mRNA (1.45-fold) compared to PS2APP mice and approximately 30-fold higher levels of PSEN2 mRNA. They also have about 2-fold higher Aβ levels than PS2APP mice (Poirier et al., 2010). The B6.152H line is maintained as a homozygote line. It is on a pure C57BL/6 background and shows less variability in pathology expression. It has been used to generate the TauPS2APP triple transgenic line by crossing with the Tau-overexpressing pR5 line (Grueninger et al., 2010).</obo:IAO_0000115>
<oboInOwl:hasDbXref>https://www.alzforum.org/research-models/ps2app</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym>B6.152H</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym>B6.PS2APP</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym>TG B6.PS2APP mice (line B6.152H)</oboInOwl:hasExactSynonym>
<rdfs:label xml:lang="en">PS2APP</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00185 -->

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<obo:IAO_0000115>Fusion of the human TCF3 and PBX1 genes. Associated with B-cell childhood lymphoblastic lymphoma.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1182/blood-2009-12-253419</obo:IAO_0000119>
<rdfs:label xml:lang="en">TCF3-PBX1</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00186 -->

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<obo:IAO_0000115>Fusion of the human MYB and GATA1 genes. Associated with acute basophilic leukaemia.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1002/path.4908</obo:IAO_0000119>
<rdfs:label xml:lang="en">MYB-GATA1</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00187 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human ZBTB16 and RARA genes. Associated with acute promyelocytic leukemia.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1038/nm.3441</obo:IAO_0000119>
<rdfs:label xml:lang="en">ZBTB16-RARA</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00188 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human IRF4 and SPIB genes. Associated with the activated B cell-like (ABC) subtype of diffuse large B cell lymphoma (DLBCL).</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1016/j.ccr.2012.05.024</obo:IAO_0000119>
<rdfs:label xml:lang="en">IRF4-SPIB</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00189 -->

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<obo:IAO_0000119>DOI: 10.4161/15592294.2014.988048</obo:IAO_0000119>
<obo:IAO_0000119>Fusion of the human EWS and FLI1 genes. Associated with Ewing sarcoma.</obo:IAO_0000119>
<rdfs:label xml:lang="en">EWS-FLI1</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00190 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human RUNX1 and ETO genes. Associated with acute myeloid leukemia.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1038/leu.2012.49</obo:IAO_0000119>
<rdfs:label xml:lang="en">RUNX1-ETO</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00191 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human YAP1 and MAMLD1 genes. Associated with supratentorial ependymoma.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1038/s41556-022-01069-6</obo:IAO_0000119>
<oboInOwl:hasExactSynonym>MAMLD1-YAP1</oboInOwl:hasExactSynonym>
<rdfs:label xml:lang="en">YAP1-MAMLD1</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00192 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human BIRC3 and MALT1 genes. Associated with B-cell non Hodgkin lymphoma and MALT lymphoma.</obo:IAO_0000115>
<rdfs:label xml:lang="en">BIRC3-MALT1</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00193 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/NCBITaxon_10090"/>
<obo:IAO_0000115>APP23 transgenic mice have the 6.7 kbp murine Thy1 cassette driving expression of human APP isoform 751, containing the Swedish double mutation (APP751*K670N/M671L) associated with Alzheimer&apos;s disease.</obo:IAO_0000115>
<oboInOwl:hasDbXref>https://www.jax.org/strain/030504</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym>APP K670N/M671L</oboInOwl:hasExactSynonym>
<rdfs:label xml:lang="en">APP23</rdfs:label>
</owl:Class>




<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00194 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human SH3PXD2A and HTRA1 genes. The gene product of the SH3PXD2A-HTRA1 fusion has been shown to promote proliferation, invasion and resistance to cell death in vitro and tumor growth in vivo.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1007/s11060-021-03796-6</obo:IAO_0000119>
<rdfs:label xml:lang="en">SH3PXD2A-HTRA1</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00195 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the ETV6 and NTRK3 genes. ETV6-NTRK3 (EN) is reported in seven different cancers.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.3390/cancers15174246</obo:IAO_0000119>
<rdfs:label xml:lang="en">ETV6-NTRK3</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00196 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human EWSR1 and FLI1 genes. Associated with Ewing Sarcoma.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.3390/cancers13153783</obo:IAO_0000119>
<rdfs:label xml:lang="en">EWSR1-FLI1</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00197 -->

<owl:Class rdf:about="http://gemma.msl.ubc.ca/ont/TGEMO_00197">
<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human CALM and AF10 genes. Associated with acute leukemia.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1038/sj.leu.2405074</obo:IAO_0000119>
<rdfs:label xml:lang="en">CALM-AF10</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00198 -->

<owl:Class rdf:about="http://gemma.msl.ubc.ca/ont/TGEMO_00198">
<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human AF4 and MLL genes. Associated with infant pro-B acute lymphoblastic leukemia.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.18632/oncotarget.19567</obo:IAO_0000119>
<oboInOwl:hasExactSynonym>MLL-AF4</oboInOwl:hasExactSynonym>
<rdfs:label xml:lang="en">AF4-MLL</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00199 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human MOZ and TIF2 genes. Associated with acute myeloid leukemia.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1016/s1535-6108(03)00051-5</obo:IAO_0000119>
<rdfs:label xml:lang="en">MOZ-TIF2</rdfs:label>
</owl:Class>



<!-- http://gemma.msl.ubc.ca/ont/TGEMO_00200 -->

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<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SO_0000287"/>
<obo:IAO_0000115>Fusion of the human CBFB and MYH11 genes. Associated with acute myeloid leukemia subtype M4Eo, which is characterized by the presence of myelomonocytic blasts and atypical eosinophils.</obo:IAO_0000115>
<obo:IAO_0000119>DOI: 10.1097/00062752-200107000-00004</obo:IAO_0000119>
<rdfs:label xml:lang="en">CBFB-MYH11</rdfs:label>
</owl:Class>



<!-- http://purl.obolibrary.org/obo/NCBITaxon_10116 -->

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