New semidominant mutations that affect mouse development.
Dominantly acting mutations that produce visible phenotypes are frequently recovered, either during routine maintenance of colonies or from mutagenesis experiments. We have studied 12 dominant mouse mutations that cause a tail dysmorphology, a coat spotting phenotype, or a combination of these. The majority of these mutations act in a semidominant manner with the homozygous state associated with embryonic lethality and a visible phenotype at or before midgestation. The homozygous phenotypes include axis truncation and neural crest cell defects, as may be expected from the heterozygous phenotypes. The majority of mutations, however, also produced other phenotypes that include neural tube closure defects and aberrant heart looping. In one coat spotting mutant the homozygous condition is lethal before neural crest cell production commences. The mutated genes often function in processes additional to those alluded to by the heterozygous phenotype.
Bogani
Debora
D
Laboratory of Early Development, Mammalian Genetics Unit, MRC Harwell, Oxfordshire OX111 0RD, UK.
Warr
Nick
N
Elms
Paul
P
Davies
Jennifer
J
Tymowska-Lalanne
Zuzanna
Z
Goldsworthy
Michelle
M
Cox
Roger D
RD
Keays
David A
DA
Flint
Jonathan
J
Wilson
Valerie
V
Nolan
Pat
P
Arkell
Ruth
R
D000477:Alkylating Agents / Q000494:pharmacology; D000818:Animals; D020296:Animals, Congenic; D015415:Biomarkers; D002874:Chromosome Mapping; D047108:Embryonic Development / Q000235:genetics*; D005038:Ethylnitrosourea / Q000494:pharmacology; D005260:Female; D005799:Genes, Dominant; D005804:Genes, Lethal; D005819:Genetic Markers; D016678:Genome; D006200:Hair Color / Q000235:genetics; D006239:Haplotypes; D006720:Homozygote; D008297:Male; D051379:Mice; D008807:Mice, Inbred BALB C; D008809:Mice, Inbred C3H; D008817:Mice, Mutant Strains; D009153:Mutagens / Q000494:pharmacology; D009154:Mutation; D011110:Polymorphism, Genetic; D013623:Tail / Q000002:abnormalities
D000477:Alkylating Agents; D015415:Biomarkers; D005819:Genetic Markers; D009153:Mutagens; D005038:Ethylnitrosourea