The transgene consists of a mouse Pcp2 promoter and a human wild-type SCA1 cDNA sequence with 30 CAG repeats. The 835 bp fragment of mouse Pcp2 regulatory sequence include exon 1, intron 1, and part of exon 2 of Pcp2. The Pcp2 promoter targets transgene expression to Purkinje cells. Transgene expression was confirmed by Northern blot and Western blot analysis of cerebellar extracts. (J:28932)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count