| First Author | Russell LB | Year | 1995 |
| Journal | Genetics | Volume | 141 |
| Issue | 4 | Pages | 1547-62 |
| PubMed ID | 8601493 | Mgi Jnum | J:29903 |
| Mgi Id | MGI:77428 | Doi | 10.1093/genetics/141.4.1547 |
| Citation | Russell LB, et al. (1995) Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. Genetics 141(4):1547-62 |
| abstractText | The homozygous and heterozygous phenotypes are described and characterized for 45 new pink-eyed dilution (p) locus mutations, most of them radiation-induced, that affect survival at various stages of mouse development. Cytogenetically detectable aberrations were found in three of the new p mutations (large deletion, inversion, translocation), with band 7C involved in each case. The complementation map developed from the study of 810 types of compound heterozygotes identifies five functional units: jls and jlm (two distinct juvenile-fitness functions, the latter associated with neuromuscular defects), pl-1 and pl-2 (associated with early- postimplantation and preimplantation death, respectively), and nl [neonatal lethality associated with cleft palate (the frequency of rare ''escapers'' from this defect varied with the genotype)]. Orientation of these units relative to genetic markers is as follows: centromere, Gas- 2 pl-1,jls, jlm p, nl (equatable to cp1 = Gabrb3); pl-2 probably resides in the c-deletion complex. pl-1 does not mask preimplantation lethals between Gas2 and p; and no genes affecting survival are located between p and cp1. The alleles specifying mottling or darker pigment (generically, p(m) and p(x), respectively) probably do not represent deletions of p-coding sequences but could be small rearrangements involving proximal regulatory elements. |
