Human Disease and Mouse Model Detail

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Human Disease

Term: Renpenning Syndrome 1; RENS1
OMIM ID: 309500

Synonyms

Golabi-Ito-Hall Syndrome; Mental Retardation, X-Linked 55; MRX55; Mental Retardation, X-Linked, Renpenning Type; Mental Retardation, X-Linked, Syndromic 3; MRXS3; Mental Retardation, X-Linked, Syndromic 8; MRXS8; Mental Retardation, X-Linked, with Spastic Diplegia; Sutherland-Haan X-Linked Mental Retardation Syndrome; SHS

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...

Pqbp1

PQBP1

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

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