Primary Identifier | MGI:6856863 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Atp1a3 |
Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
Is Recombinase | false | Is Wild Type | false |
description | The version of this allele that contains the neomycin selection cassette, Atp1a3tm1Mika, has been analyzed. |
molecularNote | A glutamate to lysine missense mutation at amino acid 815 (E815K) was introduced with a neomycin selection cassette flanked by FRT sites. Flp-mediated recombination removed the FRT-flanked neomycin cassette. This is the second most common mutation in patients with alternating hemiplegia of children. |