Vgot1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Vgot1^C57BL/6J
• Name: vaginal opening timing 1; C57BL/6J
• MGI ID: MGI:3510189
• QTL: Vgot1 Location: unknown Genetic Position: Chr6, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Inheritance: Codominant

Notes

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

J:92626

QTLs associated with pubertal timing mapped to mouse Chromosomes 6 and 13 using a panel of 22 chromosome substitution strains (CSSs) derived from inbred strains A/J and C57BL/6J. Each CSS is homozygous for an A/J-derived chromosome on a C57BL/6J genetic background. Pubertal timing was assessed using time of vaginal opening. Progenitor strain A/J exhibits significantly earlier vaginal opening compared to C57BL/6J.

The majority of CSSs had vaginal opening timings similar to that of background strain C57BL/6J but CSSs carrying an A/J-derived chromosome 6 or chromosome 13 exhibited significantly earlier vaginal opening compared to C57BL/6J (P<0.00001 for both chromosomes). The chromosome 13 CSS also exhibits significantly decreased body weight compared to C57BL/6J(P<0.000001). The chromosome 6 QTL is designated Vgot1 (vaginal opening timing 1) and the chromosome 13 QTL is designated Vgot2. No parent-of-origin effects were observed for Vgot1 or Vgot2. Both QTLs appear to have a codominant effect as heterozygous CSSs exhibit an intermediate vaginal opening timing phenotype.

J:116663

Vgot1 (vaginal opening timing 1) was previously mapped to mouse Chromosomes 6 using a panel of 22 chromosome substitution strains (CSSs). Each CSS is homozygous for an A/J-derived chromosome on a C57BL/6J genetic background. Pubertal timing was assessed using time of vaginal opening. Progenitor strain A/J exhibits significantly earlier vaginal opening compared to C57BL/6J. Vgot1 appears to have a codominant effect without parent-of-origin effects as heterozygous CSSs exhibit an intermediate vaginal opening timing phenotype.

The present study used linkage analysis and congenic line analysis to confirm and refine the Vgot1 locus. Two hundred sixty-nine (C57BL/6J- Chr6^A/J x C57BL/6J)F2 animals were generated and typed for 10 microsatellite markers located on mouse Chromosome 6 at an average spacing of 8 cM. A locus between 60 cM and 75 cM showed association with timing of vaginal opening (LOD=2.9) thus confirming Vgot1. Adjustments for body weight did not appear to modify the effects of the QTL.

Select F2 animals were backcrossed to C57BL/6J to generate 12 overlapping congenic lines covering the length of chromosome 6. As expected, females from congenic lines carrying A/J-derived DNA containing Vgot1 displayed significantly earlier vaginal opening timescompared to C57BL/6J (P<0.0001). The Vgot1 interval localized to a region distal to D6Mit59 (67 cM) containing 21 genes. Of these, five expressed sequences have non-synonymous polymorphisms between A/J and C57BL/6J: Lrmp (71 cM), Casc1 (71.1 cM), Tm7sf3,Lyrm5 (71.12 cM; formerly 4930469P12Rik), and LOC626177. (*Note- LOC626177 has been withdrawn in the ENTREZ GENE database.)

Vgot1 is sytenic to human Chromosome 12q11-q12.

References

• Original: J:92626 Krewson TD, et al., Chromosomes 6 and 13 harbor genes that regulate pubertal timing in mouse chromosome substitution strains. Endocrinology. 2004 Oct;145(10):4447-51
• All: 2 reference(s)