Exon 5, encoding a serine-rich domain, was replaced with a neomycin resistance gene, causing a frame shift that resulted in a premature stop codon. The synthesized truncated protein should contain only the first 77 amino acids, which encode the SAM domain and 23 novel residues due to the reading frame shift, however, Northern blots of heterozygous animals did not demonstrate such a truncated transcript. (J:96194)
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