The Drosophila Na,K-ATPase α-subunit gene: gene structure, promoter function and analysis of a cold-sensitive recessive-lethal mutation

1997 ◽  
Vol 1 (2) ◽  
pp. 99-117 ◽  
Author(s):  
Yuanyi Feng ◽  
Long Huynh ◽  
Kunio Takeyasu ◽  
Douglas M. Fambrough
Keyword(s):  
Gene Structure ◽  
Lethal Mutation ◽  
Subunit Gene ◽  
Α Subunit ◽  
Recessive Lethal ◽  
Promoter Function ◽  
Recessive Lethal Mutation ◽  
Cold Sensitive

scholarly journals The histology and self-differentiating capacity of the abnormal cartilage in a new lethal mutation in the rat ( Rattus norvegicus )

1939 ◽  
Vol 127 (847) ◽  
pp. 257-277 ◽  
Keyword(s):  
Rattus Norvegicus ◽  
Physiological Condition ◽  
The Body ◽  
Lethal Mutation ◽  
The Other ◽  
Recessive Lethal ◽  
Recessive Lethal Mutation ◽  
Previous Communication

In a previous communication (Grüneberg 1938), a new recessive lethal mutation has been described in the rat which produces a variety of ano­malies in various parts of the body. It was shown that all these deviations from the normal, including those disturbances which lead to the death of the lethals, are ultimately caused by an anomaly of the cartilage. All the other manifestations of the gene are therefore of a secondary nature. The histology of the abnormal cartilage will be described in the first part of this paper. For the anomaly of the cartilage, no obvious cause could be discovered by morphological means. It was pointed out, however, that this does not necessarily mean that the gene acts primarily on the cartilage. There remained the possibility that the cartilage itself was only secondarily affected by some general physiological condition of the body which pro­duced no other visible changes.

‘Immobile’ (im), a recessive lethal mutation of Xenopus laevis tadpoles

Development ◽  
1975 ◽  
Vol 34 (2) ◽  
pp. 435-449
Author(s):  
A. Droin ◽  
M. L. Beauchemin
Keyword(s):  
Xenopus Laevis ◽  
Lethal Mutation ◽  
Recessive Lethal ◽  
Recessive Lethal Mutation ◽  
Lower Jaw ◽  
Advanced Stages ◽  
Development Proceeds ◽  
Neurula Stage ◽  
Normal Controls ◽  
Muscular Tissues

‘Immobile’ (im) is a recessive lethal mutation discovered in the F3 of a Xenopus (Xenopus laevis laevis) originating from a mesodermal nucleus of a neurula transplanted into an enucleated egg. The im embryos do not contract after mechanical stimulation nor do they present any spontaneous contraction from the neurula stage onwards. Development proceeds normally during the first days after which deformation of the lower jaw and tail are observed. The im tadpoles die when normal controls are at the feeding stage. Nervous and muscular tissues are histologically normal in the mutant tadpoles; at advanced stages, however, an irregularity in the path of the myofibrils is observed which is especially conspicuous in the electron microscope. Cholinesterases and ATPase are present in the mutant muscles. Parabiosis and chimerae experiments have shown that parabionts and grafts behave according to their own genotype. Cultures of presumptive axial systems with or without ectoderm lead to the conclusion that, first of all, the abnormality is situated in the mesodermal cells and secondly that the first muscular contractions in normal Xenopus laevis are of myogenic origin. The banding pattern of the myofibrils is normal as was shown by obtaining contractions of glycerol extracted im myoblasts with ATP. It seems therefore that in this mutation, the abnormality is situated in the membranous system of the muscular cell, sarcoplasmic reticulum and/or tubular system as is probably the case in the mdg mutation of the mouse.

Embryological study of a T/t locus mutation (t w73) affecting trophectoderm development

Development ◽  
1976 ◽  
Vol 36 (2) ◽  
pp. 373-381
Author(s):  
Martha Spiegelman ◽  
Karen Artzt ◽  
Dorothea Bennett
Keyword(s):  
Close Association ◽  
Mouse Embryos ◽  
Embryological Study ◽  
Lethal Mutation ◽  
Recessive Lethal ◽  
Recessive Lethal Mutation ◽  
Ectoplacental Cone ◽  
T Locus

Mouse embryos homozygous for the recessive lethal mutation tw73 show specific defects in trophectoderm shortly after implantation. The trophectoderm and ectoplacental cone fail to form the usual close association with the uterine decidua, and proliferation is markedly reduced. The embryo proper ceases to develop beyond the two-layered stage and degenerates and dies within 5 days of implantation.

Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse

Development ◽  
1978 ◽  
Vol 43 (1) ◽  
pp. 71-84
Author(s):  
E. Rittenhouse ◽  
L. C. Dunn ◽  
J. Cookingham ◽  
C. Calo ◽  
M. Spiegelman ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Spinal Column ◽  
Recessive Gene ◽  
Cartilage Matrix ◽  
Lethal Mutation ◽  
Electron Microscopic ◽  
Human Infants ◽  
Recessive Lethal ◽  
Recessive Lethal Mutation ◽  
Trunk Limbs

A new autosomal recessive lethal mutation in the mouse designated cartilage matrix deficiency (cmd) is described. Homozygotes are dwarfed, and have abnormally short trunk, limbs, tail and snout, as well as a protruding tongue and cleft palate. The abdomen is distended because the foreshortened rib cage and spinal column forces the liver ventrad from its normal location. Histological and electron microscopic study reveals a deficiency of cartilage matrix in tracheal cartilage and in all cartilagenous bones examined. The syndrome closely resembles the rare lethal condition achondrogenesis, found in human infants, which is also believed to be due to an autosomal recessive gene.

scholarly journals A new allele sash (Wsh) at the W-locus and a spontaneous recessive lethal in mice

1982 ◽  
Vol 39 (3) ◽  
pp. 315-322 ◽  
Author(s):  
Mary F. Lyon ◽  
P. H. Glenister
Keyword(s):  
Inbred Strains ◽  
Lethal Mutation ◽  
Chromosome 5 ◽  
Recessive Lethal ◽  
Recessive Lethal Mutation

SummaryA mutation to an apparently new allele at the W-locus of the mouse arose spontaneously in a cross between two inbred strains. Heterozygotes have a broad white sash, leading to the name and symbol sash, Wsh. Homozygotes are black-eyed whites which are viable, fertile and not anaemic, although the gene does cause mild haematopoietic defects. The original mutant animal also carried a spontaneous recessive lethal mutation on chromosome 5, mapping at 2 cM distal to the W-locus.

THE GENETICS OF BLACK LARVA, AN AUTOSOMAL RECESSIVE LETHAL MUTATION LOCATED ON CHROMOSOME 3 IN THE MOSQUITO ANOPHELES ALBIMANUS

1976 ◽  
Vol 18 (1) ◽  
pp. 51-56 ◽  
Author(s):  
M. G. Rabbani ◽  
J. A. Seawright ◽  
J. B. Kitzmiller
Keyword(s):  
Autosomal Recessive ◽  
Larval Instar ◽  
Lethal Mutation ◽  
Chromosome 3 ◽  
Anopheles Albimanus ◽  
Dominant Marker ◽  
Recessive Lethal ◽  
Recessive Lethal Mutation

A spontaneous autosomal recessive lethal mutation, black larva (bl), producing black pigmented larvae that die during the 4th larval instar has been discovered in the mosquito Anopheles albimanus Wiedemann. Genetic investigations using two Y-autosome translocations and a 3rd chromosome dominant marker, St, indicate that bl is located on chromosome 3 at a distance of 15 map units from St.

Sign in / Sign up

Export Citation Format

Share Document