The human CHMP2B cDNA containing a missense mutation in the splice acceptor site of exon 6, a mutation identified in human familial FTD, is under the control of the tetracycline promoter. The mutation results in a truncation at the carboxy terminus such that the microtubule interacting and trafficking motif is lost. (J:227797)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count