Human Disease and Mouse Model Detail

Human Disease

Term: Anterior Segment Mesenchymal Dysgenesis; ASMD
OMIM ID: 107250

Synonyms

Anterior Segment Ocular Dysgenesis; ASOD

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...

Foxe3	FOXE3
Pitx3	PITX3

...both mouse and human orthologous genes.

Foxf2	FOXF2
Pax6	PAX6

...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
Foxe3^dyl/Foxe3^dyl		BALB/cLiA-Foxe3^dyl	J:59880
Pitx3^ak/Pitx3^ak		either: (involves: 129/Sv * C57BLKS) or (involves: 129/Sv * C57BL/6)	J:5084, J:82746, J:82907
Models with phenotypic similarity to human disease where etiologies are distinct.²
Foxf2^W174R/Foxf2^W174R		involves: BALB/c * C3H/HeH	J:178103
Pax6^132-14Neu/Pax6⁺		C3.Cg-Pax6^132-14Neu	J:40665
Pax6^3Neu/Pax6⁺		either: (involves: 102 * C3H) or (involves: C3H)	J:73625
Pax6^4Neu/Pax6⁺		either: (involves: 102 * C3H) or (involves: C3H)	J:73625
Pax6^7Neu/Pax6⁺		involves: 102 * C3H	J:73625

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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