On the basis of a series of southern blots, this mutation appears to involve a 1.1 kb intragenic deletion. Gene transcripts could be detected by RT-PCR. Sequence analysis of these transcripts identified a 150 bp deletion corresponding to nucleotides 2456-2585. The deletion results in a frame shift which introduces a stop codon at the beginning of the neck region. (J:29898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count