The cartilage proteoglycan deficient mutation, nanomelia, contains a DNA polymorphism in the proteoglycan core protein gene that is genetically linked to the nanomelia phenotype.

Abstract excerpt

The avian mutation, nanomelia (nm), is an autosomal recessive embryonic lethal. Homozygous embryos show hypoplasia of the limbs and a parrot-like beak. Biochemical studies have associated this phenotype with the absence of the major cartilage specific proteoglycan core protein (Argraves et al., 1981). Stirpe et al. (1987) demonstrated a reduction in core protein transcripts in nanomelic embryos. Southern analyses...

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