Human Disease and Mouse Model Detail

Human Disease

Term: Myelodysplastic Syndrome; MDS
OMIM ID: 614286

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...

Atg7	ATG7
Bap1	BAP1
Crebbp	CREBBP

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Asxl1	ASXL1
Gata2	GATA2
Sf3b1	SF3B1
Tet2	TET2

...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 are distinct.¹
Atg7^tm1Tchi/Atg7^tm1Tchi Tg(Vav1-cre)A2Kio/0	2	involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj	J:176843
Bap1^tm1.1Geno/Bap1^tm1.1Geno Gt(ROSA)26Sor^{tm9(cre/ESR1)Arte}/Gt(ROSA)26Sor⁺	2	involves: 129S6/SvEvTac * C57BL/6	J:187380
Crebbp^tm1Dli/Crebbp⁺		involves: 129S6/SvEvTac * C57BL/6	J:191503

¹Human genes are associated with this disease. Mouse model genotypes do not 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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