Human Disease and Mouse Model Detail

Human Disease

Term: Rubinstein-Taybi Syndrome 1; RSTS1
OMIM ID: 180849

Synonyms

Broad Thumb-Hallux Syndrome; Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation; Rubinstein 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...

Crebbp

CREBBP

...both mouse and human orthologous genes.

Ep300

EP300

...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
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Crebbp^{Gt(U-San)112Imeg}/Crebbp⁺		involves: C57BL/6 * CBA	J:53370
Crebbp^tm1.2Ltz/Crebbp^tm1.2Ltz Tg(Camk2a-cre)T29-1Stl/0	2	involves: 129P2/OlaHsd * BALB/c * C57BL * C57BL/6J	J:168984
Crebbp^tm1Dli/Crebbp⁺		involves: 129S6/SvEvTac * C57BL/6	J:60630
Crebbp^tm1Sis/Crebbp⁺		either: (involves: BALB/c * C57BL/6 * CBA) or (involves: C57BL/6 * CBA)	J:42932

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

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