Human Disease and Mouse Model Detail

Human Disease

Term: Holoprosencephaly 3; HPE3
OMIM ID: 142945

Synonyms

HLP3

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...

Shh

SHH

...both mouse and human orthologous genes.

Disp1

DISP1

...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
Disp1^icb/Disp1^tm1Amc Shh^tm1Amc/Shh⁺		involves: 129X1/SvJ * C57BL/6J	J:92058
Shh^tm1Chg/Shh^tm1Chg		involves: C57BL/6	J:89364
Shh^tm1Chg/Shh^tm1Chg		involves: 129S1/Sv * 129X1/SvJ	J:35802

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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