Hpdty^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Hpdty^C57BL/6J
• Name: hindlimb polydactyly; C57BL/6J
• MGI ID: MGI:3043731
• QTL: Hpdty Location: Chr2:165664893-168623678 bp Genetic Position: Chr2, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• 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:90096

Genome scan using 83 polymorphic markers across chromosomes 2-19 at an average resolution of 20 cM was performed on 152 (C57BL/6J-En1^tm1Alj x 129S1)F2 animals and 74 (C57BL/6J-En1^tm1Alj x 129S1)F1 x C57BL/6J-En1^tm1Alj backcross animals to identifyQTLs modifying limb development. The En1^tm1Alj mutation exhibits variable severity depending on strain background. Forelimb polydactyly is more prevalent among C57BL/6J-En1^tm1Alj homozygotes whereas syndactyly, cartoon paw, and preaxial shift are more prevalent among 129S1-En1^tm1Alj homozygotes.

Significant linkage to hindlimb polydactyly mapped to distal mouse Chromosome 2 between D2Mit311 (83.1 cM, LOD=5) and D2Mit229 (99 cM, LOD=4). This locus is named Hpdty (hindlimb polydactyly). 129S1-derived alleles appear to confer increased incidence of hindlimb polydactyly with a dominant mode of inheritance. Bmp2 and Bmp7 map within the Hpdty region and are considered candidate genes. Previous studies with Bmp7-deficient mutants results in preaxial polydactyly of the hindlimbs. Also, SNPs between C57BL/6J and 129S1 exist in the intronic regions of Bmp2 and Bmp7.

Linkage to preaxial shift (Prxsh) mapped to 37 cM on mouse Chromosome 8 near D8Mit104 (LOD=3.1). This locus also shows suggestive linkage to 2/3 syndactyly (LOD=2.2). Also on mouse Chromosome 8, forelimb polydactyly (Fpdty) mapped to 53 cM near D8Mit271 (LOD=3.3).

Linkage to type I polydactyly (T1pdty) mapped to 56.7 cM on mouse Chromosome 17 near D17Mit123 (LOD=3.1).

References

• Original: J:90096 Murcia CL, et al., Dissecting complex genetic interactions that influence the Engrailed-1 limb phenotype. Mamm Genome. 2004 May;15(5):352-60
• All: 1 reference(s)