Elpt^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Elpt^C57BL/6J
• Name: elevated leptin; C57BL/6J
• MGI ID: MGI:2663488
• QTL: Elpt Location: Chr7:103500186-103500329 bp Genetic Position: Chr7, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased leptin levels compared to 129S6/SvEvTac. (J:83539)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Interaction between Hypn and Elpt reached statistical significance. Hyperinsulinemia is enhanced when animals are homozygous for C57BL/6-derived alleles at both Hypn and Elpt.

An interaction between Elpt and a locus at D12Mit231 reached statistical significance. Homozygosity for C57BL/6-derived alleles at both loci enhances elevated leptin levels.

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

J:83539

Linkage analysis was performed on a population of male (C57BL/6-Insr^tm1DacIrs1^tm1Jos X 129S6/SvEvTac)F2 animals to identify QTLs associated with insulin, glucose, and leptin traits. 80 polymorphic markers at an average spacing of 20 cM were screened.Parental strain C57BL/6-Insr^tm1DacIrs1^tm1Jos exhibits a smaller body size, reduced weight and elevated glucose and insulin levels compared to parental strain 129S6/SvEvTac.

A QTL contributing to hyperinsulinemia, Hypn, mapped to 10.5 cM on mouse Chromosome 14 with a peak LOD score of 5.6 between D14Mit11 and D14Mit55.(This locus also shows linkage to diabetes with a LOD score of 3.0 at D14Mit55.) C57BL/6-derived alleles confer increased insulin levels with an additive effect at Hypn. Candidate genes mapping near Hypn are Ucp2 and Ucp3.

A QTL contributing to elevated leptin levels, Elpt, mapped to 50 cM on mouse Chromosome 7 with a LOD score of 3.7 at D12Mit38. (*D12Mit38 has been mapped to mouse Chromosome 7 in the Celera Database.) C57BL/6-derived alleles confer increased leptin levels with dominant inheritance at Elpt. Candidate genes mapping near Elpt include Prkcd, Arf4, and Dusp13.

Interaction between Hypn and Elpt reached statistical significance. Hyperinsulinemia is enhanced when animalsare homozygous for C57BL/6-derived alleles at both Hypn and Elpt.

Suggestive QTLs for glucose level at 6 months of age mapped to 48 cM on mouse Chromosome 12 with a LOD score of 2.7 at D12Mit231, and to approximately 50 cM on mouse Chromosome 14 with a LOD score of 2.3 between D14Mit75 and D14Mit228. C57BL/6-derived alleles confer hyperglycemia at these loci. An interaction between Elpt and the locus at D12Mit231 reached statistical significance. Homozygosity for C57BL/6-derived alleles at both loci enhances elevated leptin levels.

References

• Original: J:83539 Almind K, et al., Identification of interactive Loci linked to insulin and leptin in mice with genetic insulin resistance. Diabetes. 2003 Jun;52(6):1535-43
• All: 1 reference(s)