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Publication : Allelic mutations at the myotonia locus adr

First Author  Jockusch H Year  1990
Journal  Mouse Genome Volume  87
Pages  72 Mgi Jnum  J:14986
Mgi Id  MGI:63133 Citation  Jockusch H (1990) Allelic mutations at the myotonia locus adr. Mouse Genome 87:72
abstractText  Full text of Mouse Genome contribution: RESEARCH NEWS. Allelic mutations at the myotonia locus adr. H. Jockusch. Myotonia is muscle disease characterized by aftercontractions after sudden voluntary movements. Mouse mutants with these symptoms have arisen spontaneously (Sp) and after ethylnitrosourea mutagenesis (ENU). All six independently arisen myotonia mutations form a family of alleles (by the criterion of non-complementation) at the adr locus. Fig. 1 (Legend). *Connecting lines: non-complementation found by: (1) Jockusch & Bertram, 1986; Jockusch et al., 1988; (2) Guenet pers. commun., 1989; (3) Neumann & Weber, 1989; (4) Adkinson et al., 1989; (5) Jockusch, this communication. Assuming that ENU mutagenesis induces point mutations which could lead to single amino acid replacements, intra-allelic complementation might occur between two different ENU induced adr alleles, which would indicate that the adr locus specifies a multimeric protein. In a cross adrcrp/+ x adrK/+, 5 myotonic animals were found among 13 F1 animals (2 litters), indicating non- complementation and further confirming the coherence of the adr allele family.
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