Phenotypes Associated with This Genotype

Genotype
MGI:2686939

• Allelic Composition: Galns^tm1Toma/Galns^tm1Toma
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cellular

abnormal lysosome physiology ( J:87155 )

• exhibit lysomal storage in visceral tissues, brain and cornea, however mice are viable, fertile, and appear healthy up to 12 months of age

• unlike humans with mutations of the orthologous gene, mice do not display any skeletal abnormalities

homeostasis/metabolism

increased urine glycosaminoglycan level ( J:87155 )

• increase in urinary glycosaminoglycan levels

renal/urinary system

increased urine glycosaminoglycan level ( J:87155 )

• increase in urinary glycosaminoglycan levels

vision/eye

abnormal cornea morphology ( J:87155 )

• 2.3-fold higher levels of total glycoaminoglycans in the cornea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis IV		DOID:12804		J:87155