Human Disease and Mouse Model Detail

Human Disease

Term: Meckel Syndrome, Type 1; MKS1
OMIM ID: 249000

Synonyms

Dysencephalia Splanchnocystica; Gruber Syndrome; Meckel-Gruber Syndrome; Meckel-Gruber Syndrome, Type 1; Meckel Syndrome; MKS; MES

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...

Mks1

MKS1

...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
Mks1^hlb614/Mks1^hlb614		involves: C3H * C57BL/6	J:167534
Mks1^krc/Mks1^krc		involves: C3HeB/FeJ * C57BL/6 * CD-1	J:154075

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