Four bases (GATC) were inserted after the first codon in exon 15 and result in a frameshift that replaces the 41 C-terminal amino acids with 85 nonsense residues. Expression levels are 10-fold lower than in wild-type mice as confirmed by RT-PCR. (J:145759)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count