Hrtfm1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Hrtfm1^C57BL/6J
• Name: heart failure modifier 1; C57BL6J
• MGI ID: MGI:2389062
• QTL: Hrtfm1 Location: Chr2:67591940-74964933 bp Genetic Position: Chr2, cM position of peak correlated region/allele: 40.88 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers decreased survival due to heart failure compared to DBA/2J. (J:76105)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

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

J:76105

100 microsatellite markers at an average spacing of 15 cM were screened in 70 (C57BL/6J x DBA/2J-Tg(Myhca-Casq2)1Mord)F1 x C57BL/6J backcross animals and 50 (C57BL/6J x DBA/2J-Tg(Myhca-Casq2)1Mord)F1 x DBA/2J backcross animals to identify QTLs associatedwith cardiac function and survival. (C57BL/6J x DBA/2J-Tg(Myhca-Casq2)1Mord)F1 hybrid mice show markedly decreased survival and heart function compared to parental DBA/2J-Tg(Myhca-Casq2)1Mord mice.

In the first backcross, a QTL linked to heart failure,Hrtfm1, mapped to mouse chromosome 2 at 40.4 cM with a peak LOD=7.8 at D2Mit327. The QTL range of Hrtfm1 spans 38.3 cM - 43.5 cM. Haplotype analysis further refined interval to a 1.1 cM region between D2Mit325 and D2Mit418. DBA/2J-derived alleles confer increased survival at Hrtfm1 with a dominant mode of inheritance. A possible candidate gene for Hrtfm1 is titin (Ttn).

In the second backcross, a QTL linked to both cardiac function and survival, Hrtfm2, mapped to 76.2 cM on mouse Chromosome 3 with a peak LOD=9.3 at D3Mit86. The QTL range of Hrtfm2 spans 71.8 cM - 72.9 cM. Haplotype analysis further refined the interval to a 5.2 cM region between D3Mit320 and D3Mit260. C57BL/6J-derived alleles confer decreased heart function and survival at Hrtfm2 with adominant mode of inheritance.

References

• Original: J:76105 Suzuki M, et al., Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. Circulation. 2002 Apr 16;105(15):1824-9
• All: 1 reference(s)