Mice that are homozygous for a knockout of the gene for the kinesin motor protei
ID: 254155 • Letter: M
Question
Mice that are homozygous for a knockout of the gene for the kinesin motor protein KIF1B die at birth. Heterozygous knockouts survive, but suffer from a progressive muscle weakness similar to human neuropathies. Humans with Charcot-Marie-Tooth disease type 2A have a mutation in one copy of the gene for KIF1B that prevents the protein from binding ATP. The heterozygous mice and the human patients have very similar progressive neuropathies. How do you suppose that the loss of one copy of a gene for a kinesin motor can have such profound effects on nerve function?
Explanation / Answer
This is due to haploinsufficiency
Inorder to have normal axonal transport the cell requires the expression od protein product of both KIF1B alleles. When one allele gets deleted or mutated, it results in abnormal phenotype.This is called as haploinsufficiency