Genetic, physical, and phenotypic characterization of the Del(13)Svea36H mouse

The Del(13)Svea36H deletion was recovered from a radiation mutagenesis expe riment and represents a valuable resource for investigating gene. content a nd function at this region of mouse Chromosome (Chr) 13 and human Chr 6p21. 3-23 and 6p25. In this paper we examine the physical extent of chromosome l oss and construct an integrated genetic and radiation hybrid map of the del eted segment. We show that embryos which are homozygous for the deletion di e at or before implantation and that heterozygotes are subviable, with a su bstantial proportion of carriers dying after mid-gestation but before weani ng. The majority of viable carriers exhibit a variety of phenotypes includi ng decreased size, eyes open at birth, corneal opacity, tail kinks, and cra niofacial abnormalities. Both the heterozygous viability and the penetrance of the visible phenotypes vary with genetic background.