A neomycin resistance cassette was inserted into the coding region of exon 1. Western blot analysis of sciatic nerve extracts demonstrated that the protein was absent in homozygous mice. Activity assays also demonstrated the lack of functional protein in sciatic nerve extracts. (J:15313)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count