A 1bp insertion at the 1011bp locus in the third exon (CDS) of Nulp1, resulting in a premature stop codon within the DUF654 domain, producing an abbreviated poly-peptide chain after 375 amino acids.
G
The insertion of a "G" base between the indicated bases in the third exon of Nulp1 causes a frameshift and early translation termination.
Nulp13 homozygotes are semi-lethal, with the 80% of individuals dying during the pupal stage; the escapers exhibit fully penetrant bent femurs.