Phenotypes Associated with This Genotype

Genotype
MGI:8352281

• Allelic Composition: Chst5^em1Lixie/Chst5^em1Lixie
• Genetic Background: Not Specified

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

homeostasis/metabolism

abnormal glycosaminoglycan level ( J:387266 )

• keratin sulfate deposits in corneal stroma

vision/eye

abnormal cornea endothelium morphology ( J:387266 )

• non-uniform keratin sulfate glycosaminoglycan (KS GAG) distribution in cornea

• diminished cellular boundaries (fused cells)

• dysmorphic cells

• increased ruffled appearance of cell membranes

abnormal cornea stroma morphology ( J:387266 )

• keratin sulfate glycosaminoglycan (KS GAG) deposits in corneal stroma

cornea opacity ( J:387266 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinal macular dystrophy		DOID:0070438	OMIM:PS136550	J:387266