These mice carry a spontaneous autosomal recessive hair mutation (fold) exhibiting abnormal hair growth and shortened lifespans.
Kenneth Johnson, JAX
At 1 week of age fold homozygotes lack hair such that they can be distinguished from their control littermates, and at 2 weeks of age fold homozygotes have wrinkled skin. A sparse coat does grow in. Homozygotes are smaller than littermate controls throughout their lives and most die at 3 weeks of age.
The follicular dystrophy mutation arose spontaneously in 1996 on the inbred P/J strain at The Jackson Laboratory. The mutation has been identified as a C to T transition in exon 15 of the Ass1 (argininosuccinate synthetase 1) gene resulting in a threonine for isoleucine (T389I) amino acid substitution. Because of the difficulty in maintaining this mutation on the pure P/J background it was outcrossed to C57BL/6JEi and subsequently maintained via backcross-intercross to C57BL/6JEi. This strain reached NE4 and was maintained by progeny testing and sibling inbreeding proven heterozygotes for 7 generations before being backcrossed again to C57BL/6JEi.
|Allele Name||follicular dystrophy|
|Gene Symbol and Name||Ass1, argininosuccinate synthetase 1|
|Strain of Origin||P/J|
|Molecular Note||A C to T transition in exon 15, results in a threonine to isoleucine (T389I) substitution, producing a hypomoph. Measurement of RNA by quantitative real-time PCR, and protein by Western Blot and Immunohistochemistry showed no changes in level compared to wild-type.|
When maintaining a live colony, heterozygous mice may be bred together, to wild-type mice from the colony or to C57BL/6JEiJ inbred mice (Stock No. 000924). Most homozygotes die by three weeks of age.
When using the fold mouse strain in a publication, please cite the originating article(s) and include JAX stock #006449 in your Materials and Methods section.