Bdym5^129T2/SvEmsJ
QTL Variant Detail

Summary

• QTL variant: Bdym5^129T2/SvEmsJ
• Name: body mass QTL 5; 129T2/SvEmsJ
• MGI ID: MGI:6388455
• QTL: Bdym5 Location: Chr10:40545996-54836096 bp Genetic Position: Chr10, Syntenic

Variant origin

• Strain of Specimen: 129T2/SvEmsJ

Variant description

• Allele Type: QTL
• Inheritance: Not Specified

Notes

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

J:271248

Like other single-gene disorders, muscular dystrophy displays a range of phenotypic heterogeneity even with the same primary mutation. Identifying genetic modifiers capable of altering the course of muscular dystrophy is one approach to deciphering genegene interactions that can be exploited for therapy development. To this end, the authors used an intercross strategy in mice to map modifiers of muscular dystrophy. They interrogated genes of interest in an interval on mouse chromosome 10 associated with body mass in muscular dystrophy as skeletal muscle contributes significantly to total body mass.

To identify genetic regions influencing distinct properties related to muscular dystrophy, QTL mapping was carried out on a previously described F3 intercross of Sgcg-null mice from the DBA/2J and 129T2/SvEmsJ background strains: D2.129X1-Sgcg^tm1Mcn x 129T2.129X1-Sgcg^tm1Mcn. QTLRel was used to associate genetic intervals with total body mass from an F3 cohort of 189 mice using the Mouse Universal Genotyping Array.

Two loci were identified with P-values <= 0.05. The first locus on chromosome 1 maps to an interval harboring the Mstn locus, which encodes myostatin, a profound regulator of body mass. A second locus on chromosome 10 was also found to be significantly associated with body mass:

Bdym5 (body mass QTL 5) maps to Chr 10: 40.67 - 54.96 cM with a peak LOD score of 3.9.

The authors identified Dusp6 as a Bdym5 candidate gene, and found a variant unique to the DBA/2J strain, rs13480726, based on genome assembly GRCm38.p5.

References

• Original: J:271248 Vo AH, et al., Dusp6 is a genetic modifier of growth through enhanced ERK activity. Hum Mol Genet. 2019 Jan 15;28(2):279-289
• All: 1 reference(s)