| Status | Available to order |
| EMMA ID | EM:00592 |
| International strain name | B6.A2G-Clcn1adr/Cnrm |
| Alternative name | C57BL6-adr (Clc 1) |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Clcn1adr, |
| Gene/Transgene symbol | Clcn1 |
| Provider | Harald, Dr. Jockusch |
| Provider affiliation | Bielefeld University |
| Genetic information | Retroposon insertion into Clcn1 gene (Steinmeyer et al.; 1991, Nature 354, 304-308). |
| Phenotypic information | Hyperexcitability of skeletal muscle; myotonia. Causes a host of secondary effects: fiber type shift, glycolytic to oxidative; drastically reduced parvalbumin content of skeletal muscle; increased density of satellite cells; gross morphological changes of muscles and bones. The adr mutation in the Clc1 gene of the mouse has led to the discovery of the mechanism of myotonia (cf. Mehrke, G., Brinkmeier, H., and Jockusch, H. Muscle Nerve 11, 440-6, 1988 and Steinmeyer, K., et al. Nature 354, 304-8., 1991) and finally to the identification of homologous mutations in human Becker and Thomsen myotonias. |
| Breeding history | Since 2002 continuous backcrossing from A2G to C57BL/6, approximately 8 generations. |
| References |
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| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
