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Variant origin |
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Variant description |
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Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
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Notes |
Mapping and Phenotype information for this QTL, its variants and associated markersJ:86340Genome scan was performed on 217 (SM/J x NZB/BlNJ)F2 animals to identify QTLs associated with phospholipid transfer protein activity (Pltp). Parental strain NZB/BlNJ exhibits increased Pltp activity and Pltp expression compared to parental strain SM/J. On the CHOW diet, two QTLs associated with increased Pltp activity were identified. Pltpq1 (phospholipid transfer protein activity QTL 1) mapped to 34 cM on mouse Chromosome 3 near D3Mit22 and Pltpq2 mapped to 66 cM on mouse Chromosome 10 near D10Mit271.The QTL range of Pltpq1 spans from 30 cM - 45 cM on chromosome 3. NZB/BlNJ-derived alleles confer increased Pltp activity with additive inheritance at this locus. A candidate gene mapping near Pltpq1 is Apoa1bp but analysis of this gene did not reveal sequence differences between NZB/BlNJ and SM/J. The QTL range of Pltpq2 spans from 55 cM - 70 cM on chromosome 10. Heterozygous animals exhibit increased Pltp activity compared to animals homozygous for either genotype. Candidate genes mapping near Pltp2 isNr1h4 and Apof. Nr1h4 exhibits differential expression expression between NZB/BlNJ and SM/J as well as contains SNP polymorphisms. A nonconserved amino acid change was observed in the Apof sequence between NZB/BlNJ and SM/J.On an atherogenic diet, two QTL associated with increased Pltp activity were identified. Pltpq3 mapped to 56 cM on mouse Chromosome 9 near D9Mit15 and Pltpq4 mapped to 34 cM on mouse Chromosome 15 near D15Mit90. The QTL range of Pltpq3 spans from 50 cM - 60 cM on chromosome 9. NZB/BlNJ-derivedalleles confer increased Pltp activity with an additive mode of inheritance at Pltpq3. A possible candidate gene for Pltpq3 is Scap but sequence analysis yielded only a conserved amino acid change. The QTL ranges of Pltpq4 spans from 30 cM - 45cM on chromosome 15. SM/J-derived alleles confer increased Pltp activity with an additive mode of inheritance at Pltpq4. A candidate gene for Pltpq4 is Ppara. Sequence differences between NZB/BlNJ and SM/J were found in the 5' and 3' UTR region of Ppara and gene expression is elevated in SM/J on a chow diet compared to NZB/BlNJ.A QTL associated with Pltp inducibility, Pltiq1, mapped to 70 cM on mouse Chromosome 4 with LOD=3.7 at D4Mit312. The QTL range of Pltiq1 spans from 60 cM - 80 cM. NZB/BlNJ-derivedallelesconfer increased Pltp inducibility in a dominantly inherited manner. A candidate gene mapping to the Pltiq1 region is Nr0b2. On a chow diet Nr0b2 expression is different between NZB/BlNJ and SM/J. However, no sequences differences were discovered. |
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References |
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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 12/10/2024 MGI 6.24 |
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