Phenotypes Associated with This Genotype

Genotype
MGI:3617439

• Allelic Composition: Hgd^aku/Hgd^aku
• Genetic Background: either: (involves: 129/Sv * BALB/cByJ * NB) or (involves: 129/Sv * C57BL/6J * NB)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal urine color ( J:16506 )

• urine gradually turns dark over several days

• causes darkening of bedding

• ochronosis which is typical of alkaptonuria in humans does not occur in mice

homogentisic aciduria ( J:16506 )

• high levels of urinary homogentisic acid

skeleton

skeleton phenotype ( J:16506 )

N • arthritis which is typical of alkaptonuria in humans does not occur in mice

renal/urinary system

abnormal urine color ( J:16506 )

• urine gradually turns dark over several days

• causes darkening of bedding

• ochronosis which is typical of alkaptonuria in humans does not occur in mice

homogentisic aciduria ( J:16506 )

• high levels of urinary homogentisic acid

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alkaptonuria		DOID:9270	OMIM:203500	J:16506