Ednrbm1^C3HeB/FeJLe
QTL Variant Detail

Summary

• QTL variant: Ednrbm1^C3HeB/FeJLe
• Name: endothelin receptor type B modifier 1; C3HeB/FeJLe
• MGI ID: MGI:2158237
• QTL: Ednrbm1 Location: Chr10:92127383-103713756 bp Genetic Position: Chr10, cM position of peak correlated region/allele: 51.15 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C3HeB/FeJLe

Variant description

• Allele Type: QTL
• Inheritance: Not Specified

Notes

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

J:60162

91 animals from a (Mayer EdnrbS/EdnrbS x C3HeB/FeJLe a/a EdnrbS/EdnrbS)F1 x Mayer EdnrbS/EdnrbS backcross were used to localize and confirm Ednrbm1 (k10), a previously mapped hypopigmentation modifying locus on a 25 cM region of Chromosome 10 which cosegregates with MfF (melanocyte growth factor). The two strains differ in amount of hypopigmentation and patterning: C3HeB/FeJLe a/a EdnrbS/EdnrbS displays hypopigmentation as a white forelock and abdomen patch while Mayer EdnrbS/EdnrbS displays hypopigmentation on the dorsal and ventral surface yet lacks a white forelock patch. In the present study Ednrbm1 was localized to a 10 cM interval flanked by markers D10Mit10 at 51 cM and D10Mit122 at 61 cM. The dorsal hypopigmentation present in the Mayer EdnrbS/EdnrbS strain appears to be inherited in association with the Endrbm1 locus, while the white forelock patch present in C3HeB/FeJLe a/a EdnrbS/EdnrbSis inherited in association with Ednrbm1. Kitl was investigated as an obvious candidate gene. Sequence analysis revealed 3 coding region nucleotide substitutions resulting in 2 silent mutations and one alanine to serine substitution at position 207, as well as several intronic polymorphisms.

References

• Original: J:60162 Rhim H, et al., Spatially restricted hypopigmentation associated with an Ednrbs-modifying locus on mouse chromosome 10. Genome Res. 2000 Jan;10(1):17-29
• All: 1 reference(s)