Abstract
Complex nonadditive interactions between specific alleles at multiple loci may underlie many so-called multifactorial threshold birth defects. The open-eyelids-at-birth defect in mice is a good model for these defects, and an understanding of its genetic complexity begins with mapping the participating loci. The open-eyelids defect can be part of a syndrome or can occur with no other obvious phenotypic effects. Of the latter nonsyndromic forms, the lidgap series includes four extant mutations that are considered to be alleles based on complementation tests. All show genetic complexity in segregation ratios. None has been mapped previously. On the basis of a strategy of mapping the mutation with the simplest inheritance pattern first, we generated an extensive exclusion map for lidgap-Gates, lg Ga, using morphological and protein polymorphisms. We then screened the non-excluded regions in a congenic strain, AEJ.LGG—lg Ga, for SSLP markers and located the differential chromosome segment containing the lg Ga locus in a region near the distal end of mouse Chromosome (Chr) 13. This linkage was confirmed and refined by typing SSLPs in 64 F2 and 74 BC1 progeny of a cross of LGG/Bc (lg Ga/lg Ga) to SWV/Bc. The lg Ga mutation maps to a 1- to 2-cM region between D13Mit76 and D13Mit53. Integrin alpha 1 and integrin alpha 2, which map to the same general region, are possible candidate loci, based on their embryonic expression and cellular function. Evidence is also presented for a common unlinked recessive suppressor of the open eyelids trait caused by lg Ga.
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Juriloff, D.M., Harris, M.J., Mah, D.G. et al. The lidgap-Gates (lg Ga) mutation for open eyelids at birth maps to mouse Chromosome 13. Mammalian Genome 7, 403–407 (1996). https://doi.org/10.1007/s003359900121
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DOI: https://doi.org/10.1007/s003359900121