Hypt^BPL/1J
QTL Variant Detail

Summary

• QTL variant: Hypt^BPL/1J
• Name: hypertension; BPL/1J
• MGI ID: MGI:2682420
• 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: BPL/1J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased blood pressure compared to SPRET/EiJ. (J:86190)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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)