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BMC Res Notes. 2013 May 9;6:189. doi: 10.1186/1756-0500-6-189.

The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g.

Author information

1
Biomolecular Sciences, Central Connecticut State University, 1615 Stanley Street, New Britain, CT 06053, USA.

Abstract

BACKGROUND:

Mice homozygous for the spontaneous wooly mutation (abbreviated wly) are recognized as early as 3-4 weeks of age by the rough or matted appearance of their coats. Previous genetic analysis has placed wly in a 5.9 Mb interval on Chromosome 11 that contains over 200 known genes. Assignment of wly to one of these genes is needed in order to provide probes that would ultimately facilitate a complete molecular analysis of that gene's role in the normal and disrupted development of the mammalian integument.

RESULTS:

Here, a large intraspecific backcross family was used to genetically map wly to a smaller (0.8 Mb) span on mouse Chromosome 11 that includes fewer than 20 genes. DNA sequencing of the coding regions in two of these candidates known to be expressed in skin has revealed a 955 bp, wly-specific deletion. This deletion, which lies within the coordinates of both Slc5a10 [for solute carrier family 5 (sodium/glucose cotransporter), member 10] and Fam83g (for family with sequence similarity 83, member G), alters the splicing of mutant Fam83g transcripts only, and is predicted to result in a severely truncated (probably non-functional) protein product.

CONCLUSION:

We suggest that this mutation in Fam83g is the likely basis of the mouse wooly phenotype.

PMID:
23656696
PMCID:
PMC3663780
DOI:
10.1186/1756-0500-6-189
[Indexed for MEDLINE]
Free PMC Article

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