Salpa3^DBA/2J
QTL Variant Detail

Summary

• QTL variant: Salpa3^DBA/2J
• Name: serum alkaline phosphatase activity 3; DBA/2J
• MGI ID: MGI:3613004
• QTL: Salpa3 Location: unknown Genetic Position: Chr4, Syntenic

Variant origin

• Strain of Specimen: DBA/2J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased serum alkaline phosphatase activity compared to C57BL/6J. (J:103178)

Notes

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

J:103178

Linkage analysis was performed on 400 (C57BL/6J x DBA/2J)F2 animals to identify loci associated with serum alkaline phosphotase activity. Animals were phenotyped at 5- and 15-months of age, and 93 microsatellite markers were used for the genome scan. Parental strain DBA/2J exhibits higher serum alkaline phospotase activity compared to parental strain C57BL/6J.

A locus associated with alkaline phosphatase activity mapped to mouse Chromosome 4 at 58.51 cM for activity at 5 months (LOD=20.36) and to 65.91cM for activity at 15 months (LOD=20.99). This locus accounts for 20% - 34% of the genetic variance and is named Salpa3 (serum alkaline phosphatase activity 3). The Salpa3 QTL interval spans approximately 48 cM - 79 cM (D4Mit255 - D4Mit190). Homozygosityfor DBA/2J-derived alleles at Salpa3 confers increased serum alkaline phosphatase activity compared to homozygosity for C57BL/6J-derived alleles. Females appear to exhibit higher serum alkaline phosphatase activity compared to males. Akp2 at 70.2 cM is a strong candidate gene for Salpa3. C57BL/6J animals have a leucine residue at amino acid 324 of Akp2 whereas DBA/2J animals have a proline residue at that position.

A locus associated with serum alkaline phosphatase activity in males at 15 months mapped to55.21 cM on mouse Chromosome 3 with LOD=6.05. This locus accounts for 9.43% of the genetic variance and is named Salpa4 (serum alkaline phosphatase activity 4). The QTL interval of Salpa4 spans 45.2 cM - 60.8 cM. Tshb (48.5 cM), Shox2 (31.6 cM), Bglap-rs1 (42.6 cM), and Bglap2 (42.6 cM) are potential candidate genes for Salpa4. Suggestive linkage to serum alkaline phosphatase activity in males at 5 months of age mapped to 25.81 cM (LOD=3.16) and to 73.61 cM on mouse Chromosome 3 for males at 15 months ofage (LOD=3.81).

References

• Original: J:103178 Foreman JE, et al., Serum alkaline phosphatase activity is regulated by a chromosomal region containing the alkaline phosphatase 2 gene (Akp2) in C57BL/6J and DBA/2J mice. Physiol Genomics. 2005 Nov 17;23(3):295-303
• All: 1 reference(s)