This mutation was identified in a screen of archived DNA from a large-scale ENU mutagenesis project for mutations in the cis-acting limb specific regulatory sequence ("mammal-fish-conserved-sequence 1", MFCS1) of the sonic hedgehog gene, which resides ~1 Mb proximal to Shh in intron 5 of the Lmbr1 gene. The mutation comprises an A-to-G mutation at position 1072 of this sequence; the nucleotide sequence flanking the mutation site is ATGGTGAGAT [A-to-G] TTTTCCCCAC. (J:133634)