A 2bp deletion at 1007-1008bp in the third exon (CDS) of Nulp1, resulting in a premature stop codon within the DUF654 domain, producing an abbreviated poly-peptide chain after 336 amino acids.
A 2 bp deletion in the third exon of Nulp1 resulting in a frameshift and early translation termination.
Nulp14 homozygotes are semi-lethal, with the 80% of individuals dying during the pupal stage; the escapers exhibit fully penetrant bent femurs.
