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Human Disease and Mouse Model Detail
Human Disease

Term: Galactosialidosis; GSL
OMIM ID: 256540

Synonyms Cathepsin A Deficiency; Goldberg Syndrome; Lysosomal Protective Protein Deficiency; Neuraminidase/Beta-Galactosidase Expression; NGBE; Neuraminidase Deficiency with Beta-Galactosidase Deficiency; Ppca Deficiency; Protective Protein/Cathepsin A Deficiency
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...
Ctsa CTSA
  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
Ctsatm1Adz/Ctsatm1Adz   either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB/NJ) J:29674

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