Abstract

SILVA NETO, Lino; AGHAIE, Asadollah; GUENET, Jean-Louis  and  GODARD, Ana Lúcia Brunialti. The paralysé (par) mouse neurological mutation maps to a 9 Mbp (4 cM) interval of mouse chromosome 18. Genet. Mol. Biol. [online]. 2005, vol.28, n.2, pp. 201-204. ISSN 1415-4757.  http://dx.doi.org/10.1590/S1415-47572005000200003.

The Paralysé mutation is a spontaneous neuromuscular mutation, first observed in 1980 at the Pasteur Institute, which is transmitted by the autosomal recessive par allele. Affected homozygote par/par mice rarely survive beyond 16 days of age and at the end of their life they are emaciated and completely paralyzed. Several concordant histological and physiological observations indicate that mutant mice might be good models for studying early-onset human motor neuron diseases such as spinal muscular atrophy. Linkage analysis using a set of molecular markers and two F2 crosses indicate that the mutation maps to mouse chromosome 18 in a region spanning 4 cM (or 9 megabase pairs, Mbp) between the microsatellites D18Mit140 and D18Mit33. These results positioned the par locus in a region homologous to human chromosome 18p11.22 to 18q21.32.

Keywords : mouse model; neuromuscular disease; mouse genetic map; Paralysé mutation.