Human Disease and Mouse Model Detail

Human Disease

Term: Neuraminidase Deficiency
OMIM ID: 256550

Synonyms

Glycoprotein Neuraminidase Deficiency; Lipomucopolysaccharidosis; ML I; Mucolipidosis I; NEU Deficiency; NEUG Deficiency; Neuraminidase 1 Deficiency; Sialidase Deficiency; Sialidosis, Type II

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...

Neu1

NEU1

...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
Neu1^a/Neu1^a		SM/J	J:77236
Neu1^tm1Adz/Neu1^tm1Adz		either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * NMRI)	J:76937

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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