Human Disease and Mouse Model Detail

Human Disease

Term: Holoprosencephaly 2; HPE2
OMIM ID: 157170

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...

Six3

SIX3

...both mouse and human orthologous genes.

Foxg1	FOXG1
Shh	SHH

...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
Six3^tm1Gco/Six3^tm1Gco		involves: 129S1/Sv	J:81797
Six3^tm3.1Gco/Six3⁺ Shh^tm1Chg/Shh⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:140315
Six3^tm3Gco/Six3^tm3Gco Foxg1^tm1(cre)Skm/Foxg1⁺	2	involves: 129S1/Sv * C57BL/6	J:140315
Six3^{tm4(cre/ERT2)Gco}/Six3⁺		involves: 129S1/Sv * C57BL/6	J:140315

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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