Human Disease and Mouse Model Detail

Human Disease

Term: McKusick-Kaufman Syndrome; MKKS
OMIM ID: 236700

Synonyms

Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation; HMCS; Hydrometrocolpos Syndrome; Kaufman-Mckusick 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...

Mkks

MKKS

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
No similarity to the expected human disease phenotype was found.¹
NOT	Mkks^tm1Vcs/Mkks^tm1Vcs		either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	J:99276

¹One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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