| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:234691 |
| Mgi Id | MGI:5790611 | Citation | Harris BS, et al. (2016) Myotonia-like: a recessive neuromuscular mutation on Chromosome 6. MGI Direct Data Submission |
| abstractText | The autosomal recessive mutation myotonia-like, myol, arose spontaneously in the strain C3.Cg-H2<p> hael/GrsrJ at The Jackson Laboratory. By three weeks of age myol homozygotes have a hard time righting themselves and exhibit a stiffening and stretching of their legs when touched or moved. This continues throughout their lifespan. Mutants do live to adulthood and no outward phenotype was detected in heterozygotes. Because of the phenotype, this mutation was maintained by intercrossing progeny tested heterozygous siblings. The average litter size in 57 litters was 4.58 pups per litter and 18% affected mice were seen in this colony. If the born dead, found dead, and missing at wean age pups were all homozygotes, this would be the expected 25% affected offspring produced. A mapping cross was performed with FVB/NJ. F1 mice were unaffected, and in the F2 population myol segregated as a recessive mutation. The myol phenotype mapped to Chromosome 6 between rs3702975 at 12,199,651 bp, which had one recombinant out of 10 homozygotes assessed, and rs3023069 at 52,243,142 bp, which had one recombinant out of 9 homozygotes assessed. rs13478692 at 31,835,595 bp had zero recombinants out of 10 homozygotes assessed (GRCm38). Clcn1, which begins at Chromosome 6 position 42,286,685 bp, falls in this critical interval and the phenotype of this mutation is entirely consistent with that of Clcn1 mutants. Histological assessment of one female at 4.5 weeks of age found a cystic thyroid gland and no corpora lutea in the ovary, but this was not found in an 8 week old female, the only other female histologically assessed, and no anomalies were found in an 8 week old male either. |
