Mapping Data

Experiment

• Experiment
  TEXT-QTL
• Chromosome
  2
• Reference
  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
• ID
  MGI:3043728

Genes

Gene	Assay Type
Hpdty	visible phenotype
D2Mit311	PCR amplified length variant
D2Mit229	PCR amplified length variant
Bmp2	reported elsewhere
Bmp7	reported elsewhere

Notes

• Experiment
  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).