Nle1^l11Jus1

This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. The molecular lesion is a c.1187T>G transversion mutation (p.I396S change in the encoded protein) in l11Jus1 heterozygotes in exon 10. This non-conservative substitution replaces an aliphatic, hydrophobic amino acid with a polar residue, which likely disrupts functionality. In addition, an endogenous C57BL/6J non-synonymous SNP rs13468707 (c.538A>G transition; p.I180V) is present in exon 6. This is the equivalent of well-documented human SNP rs2820949 and leads to a very conservative amino acid substitution. Thus, l11Jus1 homozygotes harbor two coding changes in this gene: an ENU-induced point mutation and an additional spontaneous missense mutation that is also present in the C57BL/6J parent strain. (J:193532)