B6.Cg-Tg(PER2*S662G)867Ljp/J

Stock number: 013700
Research areas: Neurobiology Research

Description

These transgenic mice express a mutated human PER2 (S662G) gene and exhibit a shortened circadian period and an advanced sleep phase.

Detailed description

These transgenic mice express a S662G (serine -> glycine) amino acid mutation in the human PER2 (period homolog 2 (Drosophila)) gene, associated with familial advanced sleep phase syndrome (FASPS). The phenotype of these mice is reported to faithfully recapitulate the condition found in humans. Animals from both founder lines 864 and 867 demonstrate a short circadian period (21.6 hours in hemizygotes and 20.7 hours in homozygotes versus 23.7 hours in wildtype controls) and an advanced sleep phase. This strain may be useful in studies of familial advanced sleep phase syndrome (FASPS) and PER2 regulation of circadian rhythms.

Development

The full-length sequence of the human PER2 gene carried in BAC RP11-139K17 was modified to change serine residue 662 to aspartic acid (S662G, AGT->GGT). It is not known what genetic background the mutation was created on, but the strain was backcrossed more than 15 times to C57BL/6 (see SNP note below) by the donating laboratory. This is founder line 867.

A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. While the 27 markers throughout the genome suggested a C57BL/6 genetic background, at least 4 of 5 markers that determine C57BL/6J from C57BL/6N were found to be segregating. These data suggest the mice sent to The Jackson Laboratory Repository were on a mixed C57BL/6J ; C57BL/6N genetic background.

Allele

Symbol: Tg(PER2*S662G)867Ljp
Name: transgene insertion 867, Louis J Ptacek
MGI accession ID: MGI:3837437
Generation method: Transgenic
Attributes: Inserted expressed sequence; Humanized sequence
Marker symbol: Tg(PER2*S662G)867Ljp
Marker name: transgene insertion 867, Louis J Ptacek
Chromosome: UN
Strain of origin: Not Specified
Expressed genes: PER2,period circadian regulator 2,human
Molecular note: A human BAC clone was used as the transgene vector. An A to G transition was engineered into the BAC to change the AGT serine codon for amino acid residue 662 to a GGT glycine codon.