A neomycin resistance cassette flanked by loxP and lox71 was inserted into exon 1. A knock-in vector containing plox66-HS13NP was inserted along with a cre-expressing plasmid, resulting in the replacement of the neo with the vector. The vector contained lox66, IRES, human cDNA encoding the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit gene from HS13NP (GenBank AB035727), a polyA signal and an FRT-flanked CAG-hygro gene. The human gene contained 13 polyglutamine repeats. (J:123243)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count