A cDNA construct carrying mutant human Huntington gene (145Q) truncated at position ~aa1000 (Difiglia site) under the control of CAGGS promoter was targeted into endogenous mouse Htt locus. Endogenous Htt gene expression was disrupted due to deletion of partial promoter region and exon 1. (J:147112)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count