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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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Expression |
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Notes |
Mapping and Phenotype information for this QTL, its variants and associated markersJ:116492A previously identified locus for plasma plant sterol levels, Plast1, was further examined using congenic line analysis. Plast1 mappped to 17 cM on mouse Chromosome 14 with a QTL interval spanning 5 cM - 40 cM. A congenic line named 14KK was constructed by introgression of CASA/Rk-derived chromosome 14 DNA from 4 cM - 60 cM onto a C57BL/6J genetic background. Congenic line 14KK was then used to create two non-overlapping subcongenic lines named 14PKK and 14DKK. Donor strain CASA/Rk displays decreased plasma plant sterol levels compared to background strain C57BL/6J. Animals were phenotyped at 11 weeks of age. 14KK (full congenic) males displayed significantly decreased plasma campesterol, sitosterol, stigmasterol, and brassicasterol levels compared to C57BL/6J controls. However, plasma plant sterol levels in 14KK females did not differ from controls. This finding reaffirms the presence of Plast1 on chromosome 14 and revealsa sex-dependent effect. Cholesterol absorption rate, but not food intake, was significantly lower in 14KK males compared to C57BL/6J males. Therefore, the effect of Plast1 in decreasing plasma plant sterol levels in males is likely explained by decreasedcholesterol absorption.14PKK male and female mice (subcongenic for CASA-Rk DNA between D14Mit251 [4 cM] and D14Mit233 [19.5 cM]) displayed significantly decreased plasma plant sterol levels and decreased cholesterol absorption compared to C57BL/6J controls. Subcongenic 14PKK male and female animals also display increased biliary sterol secretion and elevated bile-to-plasma plant sterol ratios compared to controls. Food consumption did not differ between 14PKK and C57BL/6J.14DKK male and female mice (subcongenic for CASA/Rk DNA between D14Mit259 [19.5 cM] and D14Mit267 [60 cM]) displayed significantly decreased plasma plant sterol levels and decreased cholesterol absorption compared to C57BL/6J controls. Food consumption did not differ between 14DKK and C57BL/6J. However, female 14DKK mice have decreased absolute biliary plant sterol concentrations and bile-to-plasma plant sterol concentration ratios compared to C57BL/7J females. Authors conclude that at least 2 loci are involved in the Plast1 locus. The proximal portion of the locus (Plast1a) may harbor a gene involved in both decreasing intestinal sterol absorption and increasing biliary sterol secretion. The distal portion of the locus (Plast1b) appears to be involved in decreasing sterol absorption. Other gene-gene effects in the Plast1a-Plast1b interval may explain the sex-dependent effects present in 14KK congenics but not observed in 14PKK or 14DKK subcongenics. |
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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 11/12/2024 MGI 6.24 |
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