Exons 13-15 which encode amino acids 262-411 and contain the catalytic residue C277 were replaced with a neomycin resistance gene via homologous recombination. This region of the genome was targeted to delete both transmembrane and cytoplasmic forms of the protein. Absence of protein expression in homozygous mutant animals was verified by Western blot analysis of brain, lung, testes, spleen, and Schwann cells. (J:63866)
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