The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles

Schnulle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch JW (1997)
Mammalian genome 8(10): 718-725.

Journal Article | Published | English

No fulltext has been uploaded

Author
; ; ; ; ;
Abstract
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 (Clc1(adr)) is due to an insertion of an ETn type transposon that is transcribed and leads to multiple splicing events; the allele mto (Clc1(adr-mto)) involves a stop codon near the N-terminus. We have determined the genomic organization of the mouse Clc1 gene and the sequence requirements for the transposon insertion in the Clc1(adr) allele. The mouse Clc1 gene is composed of 23 exons, ranging from 39 to 372 bp, and spans approximately 23 kb of genomic DNA. The exo/intron organization is highly homologous to that of the human CLCN1 gene; the homology of the coding sequence is 97% to rat and 89% to human. In the adr allele the ETn transposon is inserted into intron 12, the largest intron. Whereas the 5' and 3' LTR sequences of the ETn transposon are homologous to those reported for other insertional mutations of the mouse, no consensus motif for an insertion target site could be defined. On the basis of flanking sequences, we provide duplex PCR diagnoses for the adr, adr-mto, and wild-type alleles of Clc1. Close to the 3' end of intron 12, a tetranucleotide repeat (AATC)(n) was found that is polymorphic between mouse species Mus musculus, M. molossinus, M. castaneus, and M. spretus, and can thus be used for chromosomal mapping studies.
Publishing Year
ISSN
eISSN
PUB-ID

Cite this

Schnulle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch JW. The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mammalian genome. 1997;8(10):718-725.
Schnulle, V., Antropova, O., Gronemeier, M., Wedemeyer, N., Jockusch, H., & Bartsch, J. W. (1997). The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mammalian genome, 8(10), 718-725.
Schnulle, V., Antropova, O., Gronemeier, M., Wedemeyer, N., Jockusch, H., and Bartsch, J. W. (1997). The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mammalian genome 8, 718-725.
Schnulle, V., et al., 1997. The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mammalian genome, 8(10), p 718-725.
V. Schnulle, et al., “The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles”, Mammalian genome, vol. 8, 1997, pp. 718-725.
Schnulle, V., Antropova, O., Gronemeier, M., Wedemeyer, N., Jockusch, H., Bartsch, J.W.: The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mammalian genome. 8, 718-725 (1997).
Schnulle, V, Antropova, O, Gronemeier, M, Wedemeyer, N, Jockusch, Harald, and Bartsch, JW. “The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles”. Mammalian genome 8.10 (1997): 718-725.
This data publication is cited in the following publications:
This publication cites the following data publications:

5 Citations in Europe PMC

Data provided by Europe PubMed Central.

Characteristics of Cl- uptake in rat alveolar type I cells.
Johnson M, Allen L, Dobbs L., Am. J. Physiol. Lung Cell Mol. Physiol. 297(5), 2009
PMID: 19684200
Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
White RA, McNulty SG, Nsumu NN, Boydston LA, Brewer BP, Shimizu K., Genomics 85(3), 2005
PMID: 15718100
Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants.
Heimann P, Augustin M, Wieneke S, Heising S, Jockusch H., Neuromuscul. Disord. 8(8), 1998
PMID: 10093061
Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice.
Kramer R, Lochmuller H, Abicht A, Rudel R, Brinkmeier H., Neuromuscul. Disord. 8(8), 1998
PMID: 10093060

Export

0 Marked Publications

Open Data PUB

Web of Science

View record in Web of Science®

Sources

PMID: 9321463
PubMed | Europe PMC

Search this title in

Google Scholar