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HyptSPRET/EiJ
QTL Variant Detail
Summary
QTL variant: HyptSPRET/EiJ
Name: hypertension; SPRET/EiJ
MGI ID: MGI:2682421
QTL: Hypt  Location: Chr13:35156792-35156924 bp  Genetic Position: Chr13, cM position of peak correlated region/allele: 14.23 cM
QTL Note: genome coordinates based on the marker associated with the peak LOD score
Variant
origin
Strain of Specimen:  SPRET/EiJ
Variant
description
Allele Type:    QTL
Mutation:    Undefined
    This allele confers decreased blood pressure compared to BPL/1J.
Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:86190

Hypt, a locus linked to hypertension was identified in a (SPRET/EiJ x BPL/1J) x BPL/1J backcross populaton. Parental strain BPL/1J is a hypotensive inbred mouse strain. This QTL mapped to 16 cM on mouse Chromosome 13 with LOD=3.3 at D13Mit198. The confidence interval of this QTL spans approximately 10 cM. BPL/1/J-derived alleles confer increased blood pressure at this locus.

A strong candidate gene for Hypt is Agtr1 (angiotensin receptor 1). Sequence analysis of Agtr1 revealed several synonymous polymorphisms within coding exon 3 between SPRET/EiJ, BPL/1J, and BPH/2J. (BPH/2J is a hypertensive inbred mouse strain used in a previous study.) Several nucleotide changes were also found in the Agtr1 promoter region between these 3 strains. (See reference forfull SNP description.)

Expression analysis revealed differential expression between BPL/1J and SPRET/EiJ. BPL/1J exhibits 67% increased mRNA expression compared to SPRET/EiJ. The Agtr1 promoter of BPL/1J also exhibits 95% increase in activity compared to the Agtr1 promoter of SPRET/EiJ.

References
Original:  J:86190 Wong C, et al., The angiotensin II receptor (Agtr1a): functional regulatory polymorphisms in a locus genetically linked to blood pressure variation in the mouse. Physiol Genomics. 2003 Jun 24;14(1):83-93
All:  1 reference(s)

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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
04/30/2024
MGI 6.23
The Jackson Laboratory