A 1061 bp fragment encompassing 2 exons, encoding a portion of the cytoplasmic domain including the catalytic site, was replaced with a neomycin selection cassette inserted by homologous recombination. While, mutant transcript lacking the targeted fragment was detected by RT-PCR analysis of cochlear RNA obtained from homozygous mutant mice, protein was undetected by immunostaining. Absence of protein was further verified using antisera to the C-terminal. (J:85926)
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