The transgene consists of 14.9 kb of the mouse Nfh gene (from -2.9 kb to the middle of exon 4) fused in frame to lacZ followed by an SV40 polyadenylation signal. The Nfh portion of the transgene includes the first 782 amino acids, which contains the complete N-terminal domain, central alpha-helical rod domain, and half of the C-terminal domain up to and including the 45th KSP repeat. (J:76723)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count