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Publication : A new neurological mutant "twitcher" (twi)

First Author  Duchen LW Year  1981
Journal  Mouse News Lett Volume  61
Pages  47 Mgi Jnum  J:13867
Mgi Id  MGI:62045 Citation  Duchen LW (1981) A new neurological mutant "twitcher" (twi). Mouse News Lett 61:47
abstractText  Full text of MNL contribution: Research news: A new neurological mutant 'twitcher' (twi). A new autosomal recessive mutant was first observed at The Jackson Laboratory and was sent to us for study by Dr. Eva Eicher. Behavioural abnormalities become clinically evident between the 15th and 20th post-natal days and affected animals have not survived for longer than 3 months. Signs include smaller size, a fine tremor which involves the whole body and incoordination of the limbs. The hindlimbs are particularly severely affected and in the terminal stages they are paralysed. Light and electron microscopic investigations have shown that the main pathology is found in the white matter of the central nervous system and in the myelinated fibres of peripheral nerves. Motor and sensory nerves are involved. There is marked myelin degeneration and many cells are found, almost certainly macrophages, which show an accumulation of abnormal material. Many of these cells are multinucleated. Some axonal degeneration is also seen. The appearances are very strongly suggestive of a form of leucodystrophy. We suggest 'twitcher' as a name for this mutant with a gene symbol twi.
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