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Symbol
Name
ID

Mcoln1
mucolipin 1
MGI:1890498

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Abnormality of mucopolysaccharide metabolism	Facial edema	Hydrops fetalis	Ganglioside accumulation	Urinary excretion of sialylated oligosaccharides	Proteinuria	Increased urinary O-linked sialopeptides	Ascites	Hypergastrinemia	Epiphyseal stippling
Disease(s) Associated with MCOLN1	Abnormality of mucopolysaccharide metabolism	Facial edema	Hydrops fetalis	Ganglioside accumulation	Urinary excretion of sialylated oligosaccharides	Proteinuria	Increased urinary O-linked sialopeptides	Ascites	Hypergastrinemia	Epiphyseal stippling
glycoproteinosis
mucolipidosis type IV

Mouse Phenotypes		increased circulating gastrin level
Availability	Mouse Genotype	increased circulating gastrin level
	Mcoln1^tm1Asoy/Mcoln1^tm1Asoy
	Mcoln1^tm1Sasl/Mcoln1^tm1Sasl

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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