STOCK Sgk3^fz-ica/McirJ

Stock number: 006135
Product name: Iasi congenital atrichia
Research areas: Dermatology Research, Sensorineural Research

Description

These mice harbor a spontaneous mutation of the Sgk3 gene that causes hair loss.

Detailed description

Homozygous Sgk3^fz-ica mice exhibit a sparse hair coat after birth and completely loose their hair at around postnatal day 120. Late hair follicle morphogenesis reveals multifocal cell degeneration within the Huxley layer of the inner root sheath and a complete lack of the hair shaft medulla. In addition, hair follicle development is prematurely terminated by induction of the first postnatal hair cycle with premature entry into catagen. Subsequently, a dramatically shortened telogen is immediately followed by premature anagen development, resulting in a marked, generalized acceleration of hair follicle cycling.

Development

This spontaneous mutation arose in a colony of albino Swiss outbred stock in 1992 at the University of Agricultural Sciences and Veterinary Medicine, Iasi, Romania. The mutation is maintained by sibling matings, reaching F16 in 2006. The Jackson Laboratory Repository imported this strain in 2006.

Allele

Symbol: Sgk3^fz-ica
Name: iasi congenital atrichia
MGI accession ID: MGI:3032837
Generation method: Spontaneous
Marker symbol: Sgk3
Marker name: serum/glucocorticoid regulated kinase 3
Chromosome: 1
Strain of origin: Swiss albino
Molecular note: A spontaneous mutant identified in the Genetics Laboratory at Faculty of Veterinary Medicine, Iasi, Romania, this mutant was determinied to be an allele at the fz locus via complementation analysis. Reverse transcription-polymerase chain reaction (RT-PCR) analysis of mutant DNA detected an excessively long mRNA that was shown to be the product of abnormal RNA splicing consequent to insertion of a class II retrotransposon into the third intron.

Allele

Symbol: Gnat2^cpfl3
Name: cone photoreceptor function loss 3
MGI accession ID: MGI:3588845
Generation method: Spontaneous
Marker symbol: Gnat2
Marker name: guanine nucleotide binding protein, alpha transducing 2
Chromosome: 3
Strain of origin: various
Molecular note: A single nucleotide substitution of G to A at coding nucleotide 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine (p.D200N).
General note: This allele has been detected in the following strains either by genotyping or complementation testing: ALS/LtJ, SENCARA/PtJ, SENCARB/PtJ, SENCARC/PtJ, PN/nBSwUmabJ. (J:122428) The allele has also been reported in NMRI and CD1 (Lluis Montoliu, J:212307)