Human Disease and Mouse Model Detail

Human Disease

Term: Glaucoma-Related Pigment Dispersion Syndrome; GPDS1
OMIM ID: 600510

Synonyms

Glaucoma, Pigment-Dispersion Type; Pigment Dispersion Syndrome; PDS

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Gpnmb	GPNMB
Tyrp1	TYRP1

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Gpnmb^R150X/Gpnmb^R150X		B6.D2-Gpnmb^R150X	J:128215
Gpnmb^R150X/Gpnmb^R150X Tyrp1^isa/Tyrp1^isa		involves: C57BL/6J * DBA/2J	J:54013
Gpnmb^R150X/Gpnmb^R150X		involves: C57BL/6J * DBA/2J	J:54013
Gpnmb^R150X/Gpnmb^R150X Tyrp1^isa/Tyrp1^isa		DBA/2J	J:54013
Gpnmb^R150X/Gpnmb^R150X		DBA/2J	J:54013

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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