Human Disease and Mouse Model Detail

Human Disease

Term: Lubs X-Linked Mental Retardation Syndrome; MRXSL
OMIM ID: 300260

Synonyms

Mecp2 Duplication Syndrome; Mental Retardation, X-Linked, Syndromic, Lubs Type; Mental Retardation, X-Linked, with Recurrent Respiratory Infections

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...

Mapt

MAPT

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

Mecp2

MECP2

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

Transgenes and
other mutation types

Tg(MECP2)1Hzo		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(MECP2)3Hzo

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Mapt^{tm1(Mecp2)Jae}/Mapt^{tm1(Mecp2)Jae}		B6.Cg-Mapt^{tm1(Mecp2)Jae}	J:182685
Models involving transgenes or other mutation types.²
Tg(MECP2)1Hzo/0		either: (FVB/N x 129S6/SvEvTac)F1 or (FVB/N x C57BL/6J)F1	J:181213
Tg(MECP2)3Hzo/0		either: (FVB/N x 129S6/SvEvTac)F1 or (FVB/N x C57BL/6J)F1	J:181213

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

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