Human Disease and Mouse Model Detail

Human Disease

Term: Hurler Syndrome
OMIM ID: 607014

Synonyms

Mucopolysaccharidosis Type IH; MPS1-H

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...

Idua

IDUA

...both mouse and human orthologous genes.

Prkdc

PRKDC

...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
Idua^tm1.1Kmke/Idua^tm1.1Kmke		B6.129-Idua^tm1.1Kmke	J:155619
Idua^tm1Clk/Idua^tm1Clk		B6.129-Idua^tm1Clk/J	J:130215
Idua^tm1Clk/Idua^tm1Clk		involves: 129S1/Sv * 129X1/SvJ	J:39522, J:47999
Idua^tm1Efn/Idua^tm1Efn		involves: C57BL/6	J:81974, J:101932, J:117424
Prkdc^scid/Prkdc^scid Idua^tm1Clk/Idua^tm1Clk		NOD.129(B6)-Prkdc^scid Idua^tm1Clk/J	J:139626

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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