Article
The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Oct 1997
Schnülle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch J W
Abstract excerpt
Myotonias are muscle diseases in which the function of the muscular chloride channel ClC-1 is impaired. Null alleles of the corresponding Clc1 gene on mouse chromosome (Chr) 6 provide animal models for human myotonias. It was shown that the allele adr (Clc1adr) is due to an insertion of an ETn type transposon that is transcribed and leads to multiple splicing events; the allele mto (Clc1adr-mto) involves a stop...
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