Human Disease and Mouse Model Detail

Human Disease

Term: Glaucoma 3, Primary Congenital, A; GLC3A
OMIM ID: 231300

Synonyms

Glaucoma, Congenital; GLC3

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...

Cyp1b1

CYP1B1

...both mouse and human orthologous genes.

Foxc1	FOXC1
Tyr	TYR

...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 disease where etiologies involve orthologs.¹
Cyp1b1^tm1Gonz/Cyp1b1^tm1Gonz		129X1.Cg-Cyp1b1^tm1Gonz	J:82280
Cyp1b1^tm1Gonz/Cyp1b1^tm1Gonz Tyr^c-2J/Tyr^c-2J		B6.Cg-Tyr^c-2J Cyp1b1^tm1Gonz	J:82280
Cyp1b1^tm1Gonz/Cyp1b1^tm1Gonz		involves: 129X1/SvJ * C57BL/6J	J:82280
Cyp1b1^tm1Gonz/Cyp1b1^tm1Gonz		B6.Cg-Cyp1b1^tm1Gonz	J:82280
Models with phenotypic similarity to human disease where etiologies are distinct.²
Foxc1^tm1Blh/Foxc1⁺		B6.Cg-Foxc1^tm1Blh	J:82280
Foxc1^tm1Blh/Foxc1⁺ Tyr^c-2J/Tyr^c-2J		B6.Cg-Tyr^c-2J Foxc1^tm1Blh	J:82280
Tyr^c-2J/Tyr^c-2J		B6(Cg)-Tyr^c-2J/J	J:82280

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.

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