Part of intron 2 and exon 3, which encode the pore-forming region of the ion channel, were replaced with a neomycin resistance cassette via homologous recombination. Lack of gene expression in brain, heart, and liver of homozygous mutant animals was confirmed via Northern blot analysis. (J:76195)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count