Mice homozygous for the jagged tail-like mutation have skeletal defects, including tail kinks and exostosis in the phalanges of all four feet, and severe atrophy of the seminiferous tubules and hyperplasia of the Leydig cells.Read More +
The myotonia 2 Jackson mutation has not been detected in many generations of both backcrossing and inbreeding but might still be segregating in this strain
Mice homozygous for the jagged tail-like (jgl) mutation are easily characterized by their kinked tails that are recognizable by 10 days of age. Full body X-rays revealed exostosis of the vertebrae near the tail tip and in the phalanges of all 4 feet and abnormal vertebral bodies were also reported in two 5 month old homozygotes. Both female and male reproductive organs are smaller than normal with the males showing severe atrophy of the seminiferous tubules and hyperplasia of Leydig cells. Although most homozygotes are not fertile, a few have produced litters. Homozygotes also have atrophic spleens, particularly the white pulp.
The jgl mutation arose spontaneously in the BALB/cByJ-Cln1adr-mto2J/J strain in 1998. It was backcrossed four times onto BALB/cBy then maintained by sibling breeding. Although the Cln1adr-mto2J allele was not detected in many years of sibling breeding, it has not been proven whether or not this allele is still segregating in this strain. In 2008 sperm was cryopreserved from males homozygous for jgl at generation F20.
|Allele Name||myotonia 2 Jackson|
|Gene Symbol and Name||Clcn1, chloride channel, voltage-sensitive 1|
|Strain of Origin||BALB/cByOu-Foxn1nu|
|General Note||Allelism testing showed this mutation to be allelic to Clcn1adr-mto (J:14251).|
|Allele Name||jagged tail-like|
|Gene Symbol and Name||Kntc1, kinetochore associated 1|
|Strain of Origin||BALB/cByJ-Clcn1adr-mto2J|
|Molecular Note||Similar to jg in phenotype and map location. However, a complementation test was not performed because mice carrying jg were not available except by recovery from cryopreservation. A C-to-T point mutation at coding nucleotide 2596 of the cDNA (NM_001042421) results in premature truncation at position 866 of the encoded protein (p.R866*).|
When using the jagged tail-like mouse strain in a publication, please cite the originating article(s) and include JAX stock #003922 in your Materials and Methods section.