A neomycin resistance cassette was inserted into exon 8 and gives rise to a stop codon within the neomycin gene, truncating any potential protein product before the pol catalytic domains. Western blot analysis failed to detect truncated protein. (J:99721)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count