Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse
Journal Article
·
· Genetics
OSTI ID:535351
- Oak Ridge National Lab., TN (United States)
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 {open_quotes}escapers{close_quotes} 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{sup m} and p{sup x}, respectively) probably do not represent deletions of p-coding sequences but could be small rearrangements involving proximal regulatory elements. 43 refs., 5 figs., 7 tabs.
- DOE Contract Number:
- AC05-84OR21400
- OSTI ID:
- 535351
- Journal Information:
- Genetics, Journal Name: Genetics Journal Issue: 4 Vol. 141; ISSN GENTAE; ISSN 0016-6731
- Country of Publication:
- United States
- Language:
- English
Similar Records
Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the [beta][sub 3] subunit of the type A [gamma]-aminobutyric acid receptor
Deletion mapping of four loci defined by N-ethyl-N-nitrosourea-induced postimplantation-lethal mutations within the pid-Hbb region of mouse chromosome 7
Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
Journal Article
·
Tue Jun 01 00:00:00 EDT 1993
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:6205963
Deletion mapping of four loci defined by N-ethyl-N-nitrosourea-induced postimplantation-lethal mutations within the pid-Hbb region of mouse chromosome 7
Journal Article
·
Tue Nov 30 23:00:00 EST 1993
· Genetics; (United States)
·
OSTI ID:5053060
Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
Journal Article
·
Thu Nov 30 23:00:00 EST 1995
· Genetics
·
OSTI ID:535352