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 ty...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- Chloride Channels
- Chromosome Mapping
- DNA
- DNA Mutational Analysis
- DNA Transposable Elements
- Exons
- Genes
- Humans
- Introns
- Mice
- Molecular Sequence Data
- Muscle Proteins
- Myotonia
- Polymerase Chain Reaction