Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  17
• Reference
  J:40784 Otto F, et al., Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell. 1997 May 30;89(5):765-71
• ID
  MGI:894106

Genes

Gene	Assay Type	Description
D17Mit105	PCR amplified length variant
D17Mit124	PCR amplified length variant
Mmut	reported elsewhere
D17Mit176	PCR amplified length variant
D17Mit136	PCR amplified length variant
Ccd	visible phenotype
Runx2	Southern analysis	Cbfa1 cDNA5
D17Mit52	PCR amplified length variant
D17Mit137	PCR amplified length variant
D17Mit51	PCR amplified length variant

Notes

• Reference
  The Cbfa1 locus is considered a candidate for the Ccd phenotype.
• Experiment
  Mice with the Ccd chromosomal deletion and Cbfa1 heterozygotes exhibit the same phenotype. Southern analysis has demonstrated that a Cbfa1 cDNA probe did not hybridize with DNA from C57BL/10 Ccd mice suggesting that the Cbfa1 locus may also be within thedeleted Ccd region. Polymorphism between Mus castaneus, C57BL/10, C57BL/10-Ccd and 102/102 mice were informative in mapping Cbfa1 to the deleted region. Loci within the approximate 5 cM Ccd deletion on mouse Chromosome 17 include (from proximal to distal): D17Mit105, D17Mit124, Mut, D17Mit176, D17Mit136, Cbfa1, D17Mit52, D17Mit137 and D17Mit51. Therefore, the Cbfa1 locus can be considered a candidate for the Ccd phenotype.