An intracisternal-A particle was found to be inserted into the gene at the 3' end of a 0.55 kb intron at the intron/exon junction. Northern blot analysis on embryonic RNA demonstrated that no detectable transcript was expressed from this allele. (J:42382)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count