Part of exon 1, including the translation start site, was replaced by a neomycin resistance cassette. Northern blot failed to detect transcript from mutant kidney. RT-PCR failed to detect transcript in mutant brain, heart, and liver. (J:112029)
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