Sequence analysis showed that this allele is the result of the insertion of a ~ 5 kb intracisternal A particle (IAP) between nucleotide 5815 to 5899 of an 85 nucleotide exon. This results in a premature stop codon and Northern analysis showed that this exon is not transcribed to mRNA in homozygous mutants. (J:41458)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count