A neomycin resistance cassette with a loxP site and stop codons was inserted into exon 6b. Western blot analysis confirmed the absence of full-length protein and low level expression of a truncated protein. A protein degradation assay revealed that the expressed mutant protein is more easily degraded than the wild-type in primary cortical cultured neurons from E16.5 wild-type and homozygous mutant mice. (J:227375)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count