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Human Disease and Mouse Model Detail
Human Disease

Term: Fragile X Mental Retardation Syndrome
OMIM ID: 300624

Synonyms Fragile X Syndrome; Marker X Syndrome; Mental Retardation, X-Linked, Associated with Marxq28; X-Linked Mental Retardation and Macroorchidism
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...
Fmr1 FMR1
  mousehuman...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
Fmr1tm1.1Cidz/Y   involves: 129P2/OlaHsd * 129/Sv * C57BL/6 * FVB J:176553
Fmr1tm1Cgr/Y   involves: 129P2/OlaHsd * C57BL/6J J:19220
Fmr1tm1Cgr/Y   involves: 129P2/OlaHsd J:34449, J:101021
Fmr1tm1Cgr/Fmr1tm1Cgr   involves: 129P2/OlaHsd J:101021
Fmr1tm1Cgr/Fmr1tm1Cgr   involves: 129P2/OlaHsd * C57BL/6J J:19220
Fmr1tm1Cidz/Fmr1tm1Cidz
Tg(Pcp2-cre)2Mpin/0
2 involves: 129S1/Sv * 129X1/SvJ J:101021
Fmr1tm1Rbd/Y   B6.129-Fmr1tm1Rbd J:155593
Fmr1tm1Usdn/Y   involves: 129S6/SvEvTac * C57BL/6 J:170720

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory