Disruption of the nuclear hormone receptor ROR-alpha in the staggerer mice

Article Abstract:

The nuclear hormone receptor ROR-alpha gene in staggerer mice interacts with a thyroid hormone-signaling pathway to induce maturation of cerebellar Purkinje cells. Genetic and physical mapping are used to clone the ROR-alpha gene. The reverse transcription and polymerase chain-reaction analysis indicates a 122-bp deletion which inhibits the translation of ligand-binding homology domain. The size and the position of ROR-alpha in membrane cerebellum is correlated with the Purkinje cell precursors.

Genetic aspects, Hormone receptors, Purkinje cells

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Serrate2 is disrupted in the mouse limb-development mutant syndactylism

Article Abstract:

A Notch signalling pathway is involved in the earliest stages of limb-bud patterning, according to research undertaken in mice with the syndactylism (sm) mutation. The results of this research support the view that an ancient genetic mechanism forms the basis for both apical ectodermal ridge (AER) formation in vertebrates and wing-margin formation in flies. There is now a range of circumstantial evidence for a conserved interaction between fringe homologues and Notch pathways.

Gene mutations, Gene mutation

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Functional redundancy of the muscle-specific transcription factors Myf5 and myogenin

Article Abstract:

A study was conducted on the rib cage defect observed in mice lacking he myogenic basic helix-loop-helix transcription factor Myf5. A myogenin complementary DNA was inserted into the Myf5 locus of mice through homologous recombination, subsequently disrupting Myf5 function. Mice homozygous for the myogenin gene knock-in were found to develop a normal rib cage and were viable, therefore proving the functional redundancy of Myf5 and myogenin for rib formation.

Muscles, Genetic transcription, Transcription (Genetics)

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