An oligonucleotide targeting strategy was used to introduce a frame-shift and consequently a premature stop codon in the open reading frame by the insertion of 4 bp into exon 2 (the first coding exon) between codons 13 and 14. This allele produces a truncated protein that lacks the amino terminal segment (31 amino acids) due to the presence of an alternative in-frame initiation codon 19 codons downstream. (J:125562)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count