Human Disease and Mouse Model Detail

Human Disease

Term: Opitz Gbbb Syndrome, X-Linked
OMIM ID: 300000

Synonyms

Hypertelorism-Hypospadias Syndrome; Hypertelorism with Esophageal Abnormality and Hypospadias; Opitz BBBG Syndrome, Type I; BBBG1; Opitz Gbbb Syndrome, Type I; GGGB1; Opitz-G Syndrome, Type I; OGS1; Opitz Syndrome; OS; Opitz Syndrome, X-Linked; OSX; Telecanthus-Hypospadias Syndrome

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...

Mid1

MID1

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Mid1^tm1Mero/Y		B6.Cg-Mid1^tm1Mero	J:157828

¹Human genes are associated with this disease. Mouse model genotypes 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
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12