... genetic linkage mapping and whole-exome sequencing, we identified a loss-of-function mutation in the Golgb1 gene that co-segregated with cleft palate in a new mutant mouse line. Golgb1 is a ubiquitously expressed large coiled-coil protein, also known as giantin, that is localized at the Golgi membrane...

... Mutation Ventral patterning Cell fate Gli2 Gli3 Shh In the developing mammalian ventral spinal cord, five different neuronal cell types, comprising the motoneuron (MN) and four different interneurons(V0-V3), are generated from their respective neural progenitors (pMN, pV0-pV3)under...

... residues, rescued fusion ability of the injected CD9 KO eggs. However, when the injected mouse CD9 mRNA contained a point mutation (F174 to A) the gamete fusion level was reduced fourfold, and a change of three residues (173-175, SFQ to AAA) abolished CD9’s activity in gamete fusion. These results suggest...

... protein promoter. ‡Author for correspondence (e-mail: [email protected] ) 21 4 2001 © 2001. 2001 Oligodendrocytes Nkx2.2 Expression pattern Differentiation Mutation Rat Mouse At the early stage of neural development, the neural tube is made up of multipotent...

... of retinal development, we have analyzed mutations in the mosaic eyes gene that disrupt retinal lamination, the localization of retinal cell divisions to the retinal pigmented epithelial surface and retinal pigmented epithelial development. Although retinal organization is severely disrupted in mosaic eyes...

... 12 01 2000 © 2000 by Company of Biologists 2000 BMP BMPRIB Cartilage Mutation Mouse Specificity of BMP action is thought to be achieved in part by differential affinities of distinct ligands for one of four type I receptors: TSR-I (ALK1), ACTRI (ALK2), BMPRIA (ALK3...

...Dennis S. Rice; Michael Sheldon; Gabriella D’Arcangelo; Kazunori Nakajima; Dan Goldowitz; Tom Curran ABSTRACT Mutation of either reelin ( Reln ) or disabled - 1 ( Dab1 ) results in widespread abnormalities in laminar structures throughout the brain and ataxia in reeler and scrambler mice. Both...

..., Noggin and Follistatin. Specific defects in early dorsoventral patterning have been recently found in a number of zebrafish mutants, which exhibit either a ventralized or dorsalized phenotype. One of these, the ventralized mutant chordino (originally called dino ) is caused by a mutation in the zebrafish...

... LiCl tailbud spadetail spt Brachyury T mutation no tail ntl zebrafish We have assayed staged embryos for the presence of eve1 transcripts by probing northern blots with two probes (A and B, Fig. 1B ), corresponding to both sides of the homeobox. Fig. 3 shows...

...J. Peter Estibeiro; Frances A. Brook; Andrew J. Copp ABSTRACT The mouse mutations splotch ( Sp ) and curly tail ( ct ) both produce spinal neural tube defects with closely similar morphology, but achieve this by different embryonic mechanisms. To determine whether the mutants may interact during...

... fate in the vertebrate embryo is determined by cell position. Work on the spadetail mutation will also be reviewed; this mutation causes a subset of mesodermal precursors to mismigrate during gastrulation thereby leading to a change in their eventual cell identity. These experiments showed...

... zygotic lethal mutations to analyze the assembly of this ‘primary’ embryonic nervous system. Here we focus on spinal primary motoneurons, their inputs from hindbrain Mauthner neurons, and their outputs to segmental body wall muscle. The mutation nic-1 blocks synaptic transmission between nerve and muscle...

...Adam L. Felsenfeld; Charline Walker; Monte Westerfield; Charles Kimmel; George Streisinger We describe embryonic lethal mutations in the zebrafish, Brachydanio rerio , which affect organization of skeletal muscle myofibrils. The mutations, fub-l(b45) and fub-l( b126) , were independently isolated...

... either reversal of inactivation, or the frequency with which the influence of the X chromosome extends to the albino locus. 11 04 1986 Copyright © 1986 by Company of Biologists 1986 X-inactivation mosaics pigmentation genetic activity Cattanach’s insertion albino mouse mutation...

...Earl H. Webster, Jr; Johan Zwaan; Philip Cooper ABSTRACT Sulphated materials were tested for in the eyes of late gestational and postnatal normal mice and mice with the aphakia mutation using Spicer’s high iron diamine staining method. Qualitative identification of these materials was attempted...

... time in the wild-type explants was considerably longer in the adult than at larval stages. melanophore periodic albino Xenopus laevis mutation epidermis dermis pigmentation Table 1. Incidence of melanophore differentiation in vitro We have previously succeeded...