ANALYSIS OF THE ALBINO-LOCUS REGION OF THE MOUSE: IV. CHARACTERIZATION OF 34 DEFICIENCIES

[摘要] Thirty-four independent nonviable c -locus mutations (types cal , albino lethal and cas , albino subvital), derived from radiation experiments, were tested for involvement of nearby markers tp, Mod-2, sh-1 , and Hbb : 10, 22, and 2 involved, respectively, none of these markers, Mod-2 alone, and Mod-2 plus sh-1 . When classified on this basis, as well as according to developmental stage at which homozygotes die, and by limited complementation results, the 34 independent mutations fell into 12 groups. From results of a full-scale complementation grid of all 435 possible crosses among 30 of the mutations, we were able to postulate an alignment of eight functional units by which the 12 groups fit a linear pattern. Abnormal phenotypes utilized in the complementation study were deaths at various stages of prenatal or postnatal development, body weight, and reduction or absence of various enzymes. Some of these phenotypes can be separated by complementation ( e.g ., there is no evidence that mitochondrial malic enzyme influences survival at any age); others cannot thus be separated (e.g., glucose-6-phosphatase deficiency and neonatal death).—We conclude that all of the nonviable albino mutations are deficiencies overlapping at c , and ranging in size from <2cM to 6-11 cM. The characterization of this array of deficiencies should provide useful tools for gene-dosage studies, recombinant-DNA fine-structure analyses, etc. Since many of the combinations of lethals produce viable albino animals that resemble the standard c/c type, we conclude (a) that the c locus contains no sites essential for survival, and (b) that viable non albino c -locus mutations ( cxv ) are the result of mutations within the c cistron. Viable albinos ( cav , the majority of radiation-induced c -locus mutations) may be intracistronic mutations or very small deficiencies.

[学科分类] 医学（综合）