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Heritable Phenotype: stumblepox

NomenclatureGenomic Location
SymbolstpxChromosome2
NamestumblepoxLinkage map22 cM
SpeciesDracomimus familiarisGenome Coordinatesunknown

Summary Information
Phenotype: Stumblepox is an inherited disorder of metabolism in drakes. Drakes homozygous for the recessive stumblepox allele (stpx/stpx) typically exhibit symptoms prior to maturity. The disease gets its name from cutaneous and neurologic abnormalities: scale loss, skin lesions, and acute intermittent ataxia.

Biochemically, drakes with stumblepox exhibit ketolactic acidosis and waste excretion of 3-hydroxyisovaleric acid, beta-methylcrotonylglycine, and 3-hydroxypropionic acid. The symptoms of stumblepox resemble those of scale rot and are mimicked by feeding drakes an excess of powdered egg white, which contains avidin, a biotin-binding protein. As with scale rot, treatment of stpx/stpx drakes with oral biotin supplementation completely reverses the symptoms.

Phenotype Terms:
behavior/neurological phenotype
integument phenotype
metabolism phenotype
mortality

Alleles and Phenotypes
AlleleSummary
StpxPresumptive wild-type allele
stpxRecessive allele
GenotypePhenotype
Stpx/StpxNormal
Stpx/stpxNormal
stpx/stpxStumblepox