Phenotypes Associated with This Genotype

Genotype
MGI:6416345

• Allelic Composition: Hgd^{tm1a(KOMP)Wtsi}/Hgd^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N

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

renal/urinary system

homogentisic aciduria ( J:287389 )

• urinary homogentisic acid (HGA) level is elevated approximately 100,000-fold

homeostasis/metabolism

abnormal blood homeostasis ( J:287389 )

• plasma HGA level is elevated 3-fold in P1 pups

• plasma HGA level is elevated about 100-fold in adults

homogentisic aciduria ( J:287389 )

• urinary homogentisic acid (HGA) level is elevated approximately 100,000-fold

skeleton

abnormal articular cartilage morphology ( J:287389 )

• knee joints show ochronosis in calcified articular cartilage, first at 9 weeks of age; chondrons is increased and advanced into the intracellular compartment at 26 and 40 weeks

• clusters of pigmented chondrons are seen at ligament attachment sites

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alkaptonuria		DOID:9270	OMIM:203500	J:287389