Pubt1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Pubt1^C57BL/6J
• Name: pubertal timing 1; C57BL/6J
• MGI ID: MGI:3811899
• QTL: Pubt1 Location: ChrX:52412200-61880496 bp Genetic Position: ChrX, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers later time of vaginal opening (pubertal timing) compared to C3H/HeJ. (J:139562)
• Inheritance: Dominant

Notes

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

J:139562

Genetic loci associated with pubertal timing were mapped using 260 female animals from a (C3H/HeJ x C57BL/6J)F2 intercross. Time of vaginal opening was used as a measure of pubertal timing. The female animals chosen were at the phenotypic extremes of theentire F2 population.

Linkage to time of vaginal opening mapped to 15.5 cM on mouse Chromosome X near DXMit166 (LOD=3.86). When the F2 population was stratified and analyzed as separate reciprocal crosses the LOD score increased to 4.33. This locus explains 10.5% of the phenotypic variance and is named Pubt1 (pubertal timing 1). C57BL/6J-derived alleles at Pubt1 confer increased (later) time of vaginal opening with a dominant mode of inheritance. Pubertal timing also appears to be associated with growthrate.

Fine mapping analysis using multiple modified interval specific congenic strains (mISCSs) localized the Pubt1 interval to a 2.5 cM region between DXMit68 and rs29053133. A search for candidate genes was employed for the region between DXMit103 (4.2 cM) and DXMit103 (29.5 cM). Pgrmc1 (13.3 cM), Gria3 and Plac1(16 cM) are potential candidate genes for Pubt1. A previously identified QTL for placental development, Ihpd, maps to 32 cM. Body weight QTLs C10bw6 (18.9 cM) and Pbwg7 (19 cM) also map near Pubt1.

Suggestive linkage to pubertal timing mapped to 65 cM onmouse Chromosome 5 near D5Mit367 (LOD=2.47), 61 cM on mouse Chromosome 12 near D12Mit144 (LOD=2.13), and 55.7 cM on mouse Chromosome 17 near D17Mit129 (LOD=2.314).

References

• Original: J:139562 Zhu W, et al., A dominant X-linked QTL regulating pubertal timing in mice found by whole genome scanning and modified interval-specific congenic strain analysis. PLoS One. 2008;3(8):e3021
• All: 1 reference(s)