Frem1^crf11

This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. Sequencing of the Frem1 coding region and intron/exon boundaries revealed a homozygous c.1687A.T change in DNA samples from crf11 mice which was not found in DNA from C57BL/6J and 129S6/SvEvTac control mice. This change causes an isoleucine to phenylalanine change (p.Ile563Phe) at a highly conserved amino acid residue in FREM1's third CSPG domain. (J:200175)