Primary Identifier | MGI:5751250 | Allele Type | Transgenic |
Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(PER3*P415A*H417R)1Ljp |
Strain of Origin | C57BL/6 | Is Recombinase | false |
Is Wild Type | false |
molecularNote | The transgenic construct contains the complete sequence of the human PER3 gene from BAC clone RP11-417D2 (CHORI). The BAC is modified by the targeted mutaton of PERC3 to contain the P415A and H417R missense mutations resulting in an amino acid substitution of proline for alanine at position 415 and histidine for arginine at position 417. These two rare variants are assocated with familial advanced sleep phase (FASP) and seasonal affective disorder (SAD). |