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  • 1
    Electronic Resource
    Electronic Resource
    Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice (1989)
    Springer
    Biochemical genetics 27 (1989), S. 47-58 
    Details
    ISSN: 1573-4927
    Keywords: organic aciduria ; BALB/cByJ ; mouse genetics ; butyryl CoA dehydrogenase ; short-chain fatty acid metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract A metabolic screening program of inbred strains of mice has detected a marked organic aciduria in the BALB/cByJ strain. Gas chromatographic and mass spectrometric analysis identified large quantities ofn-butyrylglycine plus lesser quantities of ethylmalonic acid. Crosses with the nonexcreting C57BL/6J strain indicate that this condition is inherited as an autosomal recessive trait. Independently from this screening a variant with no detectable enzyme activity of butyryl CoA dehydrogenase (BCD) in liver and kidney of the BALB/cByJ strain but not other BALB/c sublines was discovered. Data from a three-point cross indicated that the null variant maps to the structural locus for the enzyme,Bcd-1, on chromosome 5. The findings indicate that a mutation at or nearBcd-1 in the BALB/cByJ strain resulted in a biochemical abnormality manifest as the BCD deficiency. It is concluded that accumulation of butyryl CoA due to a block in the oxidation of short-chain fatty acids results in an overproduction of organic metabolites leading to the observed organic aciduria. The fact that other BALB/c substrains do not exhibit this abnormality further suggests that this disorder reflects subline divergence within the BALB/c family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00563017
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Screening for mouse retinal degenerations (1989)
    Springer
    Documenta ophthalmologica 71 (1989), S. 241-252 
    Details
    ISSN: 1573-2622
    Keywords: electroretinogram ; molossinus ; mouse retinal degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Using screening techniques of indirect ophthalmoscopy, electroretinography, and histology, we found inbred strains of Mus musculus molossinus to have a variable onset of retinal degeneration, which may present with early loss of outer segments and photoreceptor nuclei. The early affected mice have constricted vessels, optic atrophy, and markedly abnormal electroretinograms. An intermediate form of retinal degeneration was identified with slight arterial narrowing on ophthalmoscopy and electroretinogram amplitudes approximately 50% of normal. From this preliminary study the hereditary pattern is unclear. The mice with early onset of retinal degeneration share features seen in rd mice, but in a number of the molossinus the degeneration is slower with only a partial loss on electroretinogram amplitude.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00170973
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Screening for mouse retinal degenerations (1989)
    Springer
    Documenta ophthalmologica 71 (1989), S. 229-239 
    Details
    ISSN: 1573-2622
    Keywords: electroretinogram ; indirect ophthalmoscopy ; lethal spot ; mouse ; optic atrophy ; retinal degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Mice with hereditary retinal degeneration have provided excellent models for human disease of the biochemical and physiological events occuring in retinal degeneration. Since a number of mouse models are available for other human conditions, more mouse retinal degenerations would be expected to be known; however, finding new models has proved difficult since the search has usually involved laborious histologic screening. We applied the clinical technique of indirect ophthalmoscopy to screen mice for retinal degeneration and then used electroretinography and histology to determine whether true retinal degeneration was present. A Dawson-Trick-Litzkow microfiber corneal electrode was used to record the electroretinogram since the fiber does not occlude the pupil in these small eyes. Normal control values were developed. As an example of the success of the technique, one strain, lethal spot (ls) on indirect ophthalmoscopy appeared to have a retinal degeneration, but these mice had a normal electroretinogram indicating a primary optic atrophy. Likewise, one ls heterozygote that was tested as a control animal and was not suspected of having a retinal degeneration had an abnormal electroretinogram and peripheral retinal degeneration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00170972
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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