This spontaneous mutation maps to a region that includes Clcn1 and the phenotype is consistent with that of Clcn1 mutants. By three weeks of age myol homozygotes have difficulty righting themselves and exhibit a stiffening and stretching of their legs when touched or moved.Read More +
This spontaneous mutation maps to a region that includes Clcn1 and the phenotype is consistent with that of Clcn1 mutants. By three weeks of age myol homozygotes have difficulty righting themselves and exhibit a stiffening and stretching of their legs when touched or moved. This continues throughout their lifespan. The average litter size in 57 litters from heterozygous intercrosses 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. Thus, although identified mutants generally live to adulthood there may be significant perinatal death. No outward phenotype was detected in heterozygotes. Because the strain of origin may have had the H2p haplotype, the cryorecovered bankstock may be segregating at the H2 locus.
The myotonia-like mutation arose spontaneously in the C3.Cg-H2p hael/GrsrJ strain at The Jackson Laboratory and was maintained by sibling intercrossing for a few generations before sperm was cryopreserved from heterozygous males. Successful cryorecovery has been done using C3H/HeJ oocytes. The hael phenotype was not seen in this mutant subline, but this recessive mutation may be segregating in this sperm bankstock.
|Allele Name||p variant|
|Allele Type||Not Applicable|
|Gene Symbol and Name||H2, histocompatibility-2, MHC|
|Strain of Origin||various|
|Molecular Note||The p haplotype of the H2 complex is known to be present in the inbred strains F/St, NB, and P/J.|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||myol, myotonia-like|
|Strain of Origin||C3.Cg-H2p hael/GrsrJ|
|Molecular Note||This heritable phenotypic marker arose spontaneously at The Jackson Laboratory and was mapped to Chromosome 6 between rs3702975 at 12,199,651 bp and rs3023069 at 52,243,142 bp, an interval that includes the candidate gene Clcn1.|