B6Ei.P-Ass1^fold/GrsrJ

Stock number: 006449
Product name: fold
Research areas: Dermatology Research, Developmental Biology Research

Description

These mice carry a spontaneous autosomal recessive hair mutation (fold) exhibiting abnormal hair growth and shortened lifespans.

Detailed description

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.

Development

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

Symbol: Ass1^fold
Name: follicular dystrophy
MGI accession ID: MGI:3696404
Generation method: Spontaneous
Marker symbol: Ass1
Marker name: argininosuccinate synthetase 1
Marker synonyms: ASS; Ass-1; ASSA; CTLN1; fold
Chromosome: 2
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.