BALB/cByJ-Kntc1^jgl/GrsrJ

Stock number: 003922
Product name: jagged tail-like
Research areas: Cell Biology Research, Developmental Biology Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research

Description

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.

Detailed description

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.

Development

The jgl mutation arose spontaneously in the BALB/cByJ-Cln1^adr-mto2J/J strain in 1998. It was backcrossed four times onto BALB/cBy then maintained by sibling breeding. Although the Cln1^adr-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

Symbol: Clcn1^adr-mto2J
Name: myotonia 2 Jackson
MGI accession ID: MGI:1855954
Generation method: Spontaneous
Marker symbol: Clcn1
Marker name: chloride channel, voltage-sensitive 1
Marker synonyms: Clc1; Clc-1; nmf310; nmf355; SMCC; SMCC1
Chromosome: 6
Strain of origin: BALB/cByOu-Foxn1^nu
General note: Allelism testing showed this mutation to be allelic to Clcn1^adr-mto (J:14251).

Allele

Symbol: Kntc1^jgl
Name: jagged tail-like
MGI accession ID: MGI:2679537
Generation method: Spontaneous
Marker symbol: Kntc1
Marker name: kinetochore associated 1
Marker synonyms: jgl; ROD
Chromosome: 5
Strain of origin: BALB/cByJ-Clcn1^adr-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*).