ABSTRACT
In mice and humans, growth insufficiency and male infertility are common disorders that are genetically and phenotypically complex. We describe a spontaneously arising mouse mutant, chagun, that is affected by both dwarfism and male infertility. Dwarfism disproportionately affects long bones and is characterized by a defect in the proliferative zone of chondrocytes in the growth plate. Gonads of mutant males are small, with apparent germ cell loss and no evidence of mature sperm. The locus responsible for chagun is recessive and maps to distal chromosome 9, in a region homologous to human chromosome 3. This location is consistent with chagun defining a novel locus. Identification of the mutant gene will uncover the basis for another type of skeletal dysplasia and male infertility.
Subject(s)
Bone Diseases, Developmental/genetics , Chromosomes, Mammalian/genetics , Dwarfism/genetics , Infertility, Male/genetics , Animals , Bone Diseases, Developmental/pathology , Bone and Bones/pathology , Chondrocytes/ultrastructure , Chromosome Mapping , Genes, Recessive/genetics , Genetic Linkage/genetics , Hypogonadism/genetics , Infertility, Male/pathology , Male , Mice , Mice, Mutant Strains , Mutation/genetics , Osteochondrodysplasias/pathology , Pedigree , Spermatozoa/pathology , Testis/pathologyABSTRACT
The genetic and physiological characterization of circling, hearing-impaired mouse mutants has greatly facilitated our understanding of non-syndromic sensorineural deafness, the most common form of hereditary human hearing loss. Here we report the first phenotypic characterization of three alleles of Ames waltzer (av). Neither electrical potentials (auditory brainstem response) nor behavioral responses to sound could be evoked in any of the three alleles at any age or frequency. However, the endocochlear potential was found to be normal, indicating that the primary pathology is not in the stria vascularis. To determine the earliest changes and help identify the primary causes of deafness in av, we performed morphological studies in 15-16 day old mutants, just prior to the maturation of the cochlea. Although av(2J) is slightly more affected than the other two alleles, our studies show a high similarity between all three alleles. The first detectable changes are observed in the stereocilia and cytoplasm of hair cells, and in the cellular shape and microvilli of supporting cells. These changes are followed by degeneration of the cochlear and vestibular neuroepithelium.
Subject(s)
Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/physiopathology , Vestibule, Labyrinth/physiopathology , Alleles , Animals , Auditory Threshold , Cochlea/pathology , Cochlea/physiopathology , Evoked Potentials, Auditory, Brain Stem , Female , Hair Cells, Auditory/pathology , Hearing Loss, Sensorineural/pathology , Humans , Male , Membrane Potentials , Mice , Mice, Inbred C57BL , Mice, Mutant Strains , Microscopy, Electron , Microscopy, Electron, Scanning , Mutation , Organ of Corti/pathology , Organ of Corti/physiopathology , Phenotype , Vestibule, Labyrinth/pathologyABSTRACT
Early socket stimulation is crucial for management of congenital anophthalmos and microphthalmos among infants. Progressive sized hard conformers and lid expansion devices can expand the small socket in these patients. The ocularists' management of these two conditions is discussed and techniques are introduced.
Subject(s)
Anophthalmos/surgery , Microphthalmos/surgery , Eye, Artificial , Humans , Infant , Orbit/surgery , Prostheses and Implants , Surgery, PlasticABSTRACT
We developed a patient eye shield consisting of a sandwich of polymethylmethacrylate and tinfoil to provide corneal and retinal protection from inadvertent injury during argon, neodymium:YAG, or dye laser treatment. The shield was tested with argon, dye, neodymium:YAG and CO2 lasers. This new eye shield is safe, comfortable, and easy to clean and use.
