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Human Disease and Mouse Model Detail
Human Disease

Term: Mucopolysaccharidosis Type IIIB
OMIM ID: 252920

Synonyms MPS IIIB; MPS3B; N-Acetyl-Alpha-D-Glucosaminidase Deficiency; Naglu Deficiency; Sanfilippo Syndrome B
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...
Naglu NAGLU
  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
Naglutm1Efn/Naglutm1Efn   either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6) J:58950
Naglutm1Efn/Naglutm1Efn   involves: 129S/SvEv * C57BL/6 J:81974
Naglutm1Efn/Naglutm1Efn   involves: 129S/SvEv * C57BL/6J J:129390

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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory