Molecular and Functional Mapping of the Piebald Deletion Complex on Mouse Chromosome 14

Molecular and Functional Mapping of the Piebald Deletion Complex on Mouse Chromosome 14

Jeffrey J. Roix^a, Aaron Hagge-Greenberg^a, Dennis M. Bissonnette^a, Sandra Rodick^a, Liane B. Russell^b, and Timothy P. O'Brien^a
^a The Jackson Laboratory, Bar Harbor, Maine 04609
^b Biology Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831

Corresponding author: Timothy P. O'Brien, The Jackson Laboratory, 600 Main St., Bar Harbor, ME 04609., tpo{at}jax.org (E-mail)

Communicating editor: N. A. JENKINS

The piebald deletion complex is a set of overlapping chromosomaldeficiencies surrounding the endothelin receptor B locus collectedduring the Oak Ridge specific-locus-test mutagenesis screen.These chromosomal deletions represent an important resourcefor genetic studies to dissect the functional content of a genomicregion, and several developmental defects have been associatedwith mice homozygous for distinct piebald deletion alleles.We have used molecular markers to order the breakpoints for20 deletion alleles that span a 15.7–18-cM region of distalmouse chromosome 14. Large deletions covering as much as 11cM have been identified that will be useful for regionally directedmutagenesis screens to reveal recessive mutations that disruptdevelopment. Deletions identified as having breakpoints positionedwithin previously described critical regions have been usedin complementation studies to further define the functionalintervals associated with the developmental defects. This hasfocused our efforts to isolate genes required for newborn respirationand survival, skeletal patterning and morphogenesis, and centralnervous system development.

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