Human Disease and Mouse Model Detail

Human Disease

Term: Kleefstra Syndrome
OMIM ID: 610253

Synonyms

9q Subtelomeric Deletion Syndrome; 9q- Syndrome; Chromosome 9q34.3 Deletion 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...

Ehmt1

EHMT1

...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
Ehmt1^tm1.1Tara/Ehmt1^tm1.1Tara Tg(Camk2a-cre)2Gsc/0	2	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	J:155739
Ehmt1^tm1Yshk/Ehmt1⁺		involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	J:157021, J:192316

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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