Phenotypic analysis of transmitochondrial chimeric mice

In our experience, mice harbouring mitochondrial defects due to either nDNA or mtDNA mutations exhibit many of the same phenotypic, physiological and biochemical abnormalities as seen in patients with mitochondrial disease. Hence, we analyse these animals comprehensively for metabolic, ophthalmolo-gical, neurological, and exercise physiology defects.

(a) Physiological status: The viability and behavioural characteristics of the mice are reviewed daily during cage surveys. Serum and urine are collected and analysed for organic acids, amino acids, and carnitine and acyl-carnitine derivatives using standard laboratory procedures (90-92).

(b) Ophthalmological and neurological evaluation:Mice are evaluated for potential phenotypic effects on the visual, auditory, motor, and cognitive systems. Ophthalmological analysis of mutant animals includes slit-lamp analysis (for cataracts), ophthalmoscopy, electroretinograms, and retinal histology (93, 94). Auditory evoked brainstem response (ABR) is recorded at 8, 16, and 32 kHz over a range of intensities, using vertex, ear, and dorsal

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