A loxP site was inserted upstream of exon 17 and a floxed neo cassette was inserted downstream of exon 19. Cre mediated recombination removed exons 17-19 and the neo cassette. Immunoblot analysis of whole-brain homogenates using an antibody raised against the cytoplasmic segment revealed absence of the functionally active full-length transport form as well as absence of the C-terminal cytosolic segment in homozygous mutant mice. An antibody raised against the N-terminal cadherin-like domains detected a truncated form in homozygous and heterozygous mutant mice that is slightly shorter than the ectodomain in wild-type mice, the predominant form that normally accumulates after juxtamembrane cleavage in the extracellular compartment. Because of the absence of the transmembrane and cytosolic segment, this fragment lacks the kinesin-docking function of full-length protein. (J:212386)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count