The paralysé (par) mouse neurological mutation maps to a 9 Mbp (4 cM) interval of mouse chromosome 18

Genetics and Molecular Biology

Lino Silva Neto²  Asadollah Aghaie¹  Jean-louis Guénet¹  Ana Lúcia Brunialti Godard² 

[1] ,Universidade Federal de Minas Gerais ICB Laboratório de Genética Animal e HumanaBelo Horizonte MG ,Brazil

关键词: mouse model;    neuromuscular disease;    mouse genetic map;    Paralysé mutation;   

DOI  :  10.1590/S1415-47572005000200003

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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