Human Disease and Mouse Model Detail

Human Disease

Term: Mucopolysaccharidosis Type VII
OMIM ID: 253220

Synonyms

Beta-Glucuronidase Deficiency; Gusb Deficiency; MPS VII; MPS7; Sly Syndrome

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...

Gusb

GUSB

...both mouse and human orthologous genes.

Hexa	HEXA
Hexb	HEXB

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Gusb^mps-2J/Gusb^mps-2J		C3H/HeOuJ-Gusb^mps-2J/BrkJ	J:50358, J:72372
Gusb^mps-3J/Gusb^mps-3J		C57BL/6J-Gusb^mps-3J/J	J:137667
Gusb^mps/Gusb^mps		B6.Cg-Gusb^mps/BrkJ	J:21256
Gusb^mps/Gusb^mps		B6.C-H2-K^bm1/ByBir-Gusb^mps/J	J:9705
Gusb^tm1Sly/Gusb^tm1Sly		involves: 129X1/SvJ * C57BL/6J	J:81792
Gusb^tm2Sly/Gusb^tm2Sly		involves: 129X1/SvJ * C57BL/6J	J:81792
Gusb^tm3Sly/Gusb^tm3Sly		involves: 129X1/SvJ * C57BL/6J	J:81792
Gusb^tm4Sly/Gusb^tm4Sly		involves: 129X1/SvJ * C57BL/6	J:83169
Models with phenotypic similarity to human disease where etiologies are distinct.²
Hexa^tm1Rlp/Hexa^tm1Rlp Hexb^tm1Rlp/Hexb^tm1Rlp		involves: 129S4/SvJae * C57BL/6	J:36305

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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