Albq8^DBA/2J
QTL Variant Detail

Summary

• QTL variant: Albq8^DBA/2J
• Name: albuminuria QTL 8; DBA/2J
• MGI ID: MGI:3762845
• QTL: Albq8 Location: unknown Genetic Position: Chr8, Syntenic

Variant origin

• Strain of Specimen: DBA/2J

Variant description

• Allele Type: QTL
• Inheritance: Other (see notes)

Notes

Albq8 interacts with Albq6 on chromosome 4. Heterozygosity for C57BL/6J and DBA/2J alleles at Albq6 and homozygosity for DBA/2J alleles at Albq8 confers significantly increased urine albumin concentration.

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

J:126352

Linkage analysis was performed on 340 male animals from a (C57BL/6J x DBA/2J)F2 intercross to identify QTLs associated with albuminuria. Parental strain DBA/2J displays significantly increased urine albumin concentration compared to parental strain C57BL/6J. A panel of 91 SNP markers at an average spacing of 17 cM was used for genome scan.

Significant linkage to urine albumin concentration mapped to a broad region on mouse Chromosome 2 between 18 cM and 99 cM. This locus is named Albq5 (albuminuria QTL5). DBA/2J-derived alleles at Albq5 confer increased urine albumin concentration with recessive inheritance. Fine map analysis refined Albq5 into three interacting QTLs at 36 cM (Albq5a), 74 cM (Albq5b), and 134 cM (Albq5c). The Albq5a interval is syntenic to regions on human Chromosomes 11p and 2q linked to renal function in type 2 diabetes. The Albq5b interval spans 68 cM - 84 cM and is syntenic to rat albuminuria QTL Rf3 and a region on human Chromosome 20p12 linked to urinary albumin-to-creatine ratio. Candidate genes for Albq5b exhibiting differential gene expression in C57BL/6J and DBA/2J kidneys include Flrt3, Kif16b, Rrbp1, Polr3f, Snx5 (80 cM), and Rbbp9.

Suggestive linkage to urine albumin concentration mapped to 24 cM on mouse Chromosome 4 with LOD=3 between 0 cM - 58 cM and is designated Albq6 (albuminuria QTL 6). This locus interacts with Albq8 (albuminuria QTL 8) on mouse Chromosome 8 at 32 cM. Animals heterozygous for C57BL/6J and DBA/2J alleles at Albq6 and homozygous for DBA/2J alleles at Albq8 display significantly increased urine albumin concentration (LOD=5.4).

Albq7 (albuminuria QTL 7) mapped to mouse Chromosome 5 between 9 cM and 45 cM. Peak linkage occurs at 25 cM with LOD=3.2. This locus is syntenic to a region on human Chromosome 4p15 associated with end-stage renal disease. DBA/2J-derived alleles at Albq7 confer increased urine albumin concentration with an additive mode of inheritance. Albq7 interacts with Albq9 (albuminuria QTL 9) on mouse Chromosome 14 at 22cM. Animals homozygous for DBA/2J alleles at Albq7 and homozygous for C57BL/6J alleles at Albq9 display significantly increased urine albumin concentration (LOD=3.9).

References

• Original: J:126352 Sheehan S, et al., Genetic analysis of albuminuria in a cross between C57BL/6J and DBA/2J mice. Am J Physiol Renal Physiol. 2007 Nov;293(5):F1649-56
• All: 1 reference(s)