MGI:98371Null mutant heterozygotes and conditional knockout mutants display perinatal lethality with cleft palate, hypoplasia and distortion of numerous cartilage-derived skeletal structures, and premature mineralization in many bones. Specific conditional knockout mutations are sex-reversed. A heterozygous otic-vesicle-specific conditional gain-of-function mutation leads to various vestibular and hearing-related phenotypes.