The r18 mutation was mapped to Chromosome 19, and corresponds to the insertion of a single nucleotide, C, after position 4838 of the low density lipoprotein receptor-related protein 5 encoding gene (Lrp5). This causes a frameshift after codon 1576, which encodes proline. The frameshift is predicted to replace the C-terminal 39 amino acids of LRP5 with 20 aberrant amino acids, and to cause premature termination at codon 1596 in exon 23 of 23 total exons. (J:135279)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count