Human Disease and Mouse Model Detail

Human Disease

Term: Creatine Deficiency Syndrome, X-Linked
OMIM ID: 300352

Synonyms

Creatine Transporter Defect; Mental Retardation, X-Linked, with Creatine Transport Deficiency; Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia

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...

Slc6a8

SLC6A8

...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
Slc6a8^tm1.1Clar/Y Tg(Camk2a-cre)2Gsc/0	2	involves: C57BL/6 * C57BL/6J * FVB/N	J:190081
Slc6a8^tm1.2Clar/Y		involves: BALB/cJ * C57BL/6 * C57BL/6J * SJL	J:169472

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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