The self excising ACN cassette was inserted to replace exons 13 and 14. Amino acids 594-661, located in the presumptive cytoplasmic amino-terminal domain, were deleted from the locus, introducing a premature stop codon before and a frame shift after the deleted region. RT-PCR confirmed absence of transcript from mutant trigeminal ganglia. (J:122978)
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