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Human Disease and Mouse Model Detail
Human Disease

Term: MASA Syndrome
OMIM ID: 303350

Synonyms Adducted Thumb with Mental Retardation; Clasped Thumb and Mental Retardation; CRASH Syndrome; Gareis-Mason Syndrome; Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs; Spastic Paraplegia 1, X-Linked; SPG1; Thumb, Congenital Clasped, with Mental Retardation
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...
L1cam L1CAM
  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
L1camtm1Mtei/Y   either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * 129S/SvEv) J:43838

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

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