Figure 4.

A missense mutation in Jag1 leads to the Htu phenotype. (A) Sequence of the Jag1 gene in a Htu/+ mouse showing the G→A mutation, the predicted protein sequence change, and its location in the schematic protein structure. The signal peptide (SP), the Delta:Serrate:LAG-2 (DSL) domain, the EGF-like repeats in the patterned boxes with the insertion sequence in a clear box, the cysteine-rich region (CR), and the transmembrane domain (TM) are shown. (B) Amino acid sequence alignment of Jagged/Serrate molecules from various species, showing the conservation of this glycine residue in vertebrates, although there is an arginine at this position in Drosophila.