Phenotypes Associated with This Genotype

Genotype
MGI:3797579

• Allelic Composition: Hyal1^tm1Stn/Hyal1^tm1Stn
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

skeleton

osteoarthritis ( J:136860 )

• osteoarthritis is seen by 20 months of age, as evidenced by the loss of cartilage proteoglycan content in knee joints and the development of an osteophyte on the tibial plateau

abnormal chondrocyte morphology ( J:136860 )

• mutants display an increased number of epiphyseal chondrocytes with intense pericellular or cytoplasmic hyaluronan (HA) staining compared to wild-type, indicating an accumulation of HA in cartilage

immune system

osteoarthritis ( J:136860 )

• osteoarthritis is seen by 20 months of age, as evidenced by the loss of cartilage proteoglycan content in knee joints and the development of an osteophyte on the tibial plateau

liver/biliary system

abnormal liver morphology ( J:136860 )

• at 20 months of age, a spotting of the liver is observed that progresses in severity with age

respiratory system

small lung ( J:136860 )

• lungs of males are smaller at 12 months of age

homeostasis/metabolism

increased hyaluronic acid level ( J:136860 )

• increased accumulation of hyaluronan (HA) in cartilage

• however, no elevations of HA are detected in serum or non-skeletal tissues

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis IX		DOID:0050809	OMIM:601492	J:136860