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Human Disease and Mouse Model Detail
Human Disease

Term: Holoprosencephaly
OMIM ID: 236100

Synonyms Holoprosencephaly, Familial Alobar; HPE, Familial; HPEC
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...
Nodal NODAL
  mousehuman...both mouse and human orthologous genes.
     
Boc BOC
Cdon CDON
Chrd CHRD
Nog NOG
Smad3 SMAD3
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Foxh1 FOXH1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Chrdtm1Emdr/Chrdtm1Emdr
Nodaltm1Rob/Nodal+
  involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ J:161524
Models with phenotypic similarity to human disease where etiologies are distinct.2
Boctm1Rsk/Boc+
Cdontm1Rsk/Cdontm1Rsk
  involves: 129/Sv * 129S6/SvEvTac J:171767
Boctm1Rsk/Boctm1Rsk
Cdontm1Rsk/Cdontm1Rsk
  B6.129-Boctm1Rsk Cdontm1Rsk J:171767
Boctm1Rsk/Boctm1Rsk
Cdontm1Rsk/Cdontm1Rsk
  involves: 129/Sv * 129S6/SvEvTac J:171767
Boctm2Rsk/Boc+
Cdontm1Rsk/Cdontm1Rsk
  involves: 129/Sv * 129S6/SvEvTac J:171767
Boctm2Rsk/Boctm2Rsk
Cdontm1Rsk/Cdontm1Rsk
  B6.129-Boctm2Rsk Cdontm1Rsk J:171767
Boctm2Rsk/Boctm2Rsk
Cdontm1Rsk/Cdontm1Rsk
  involves: 129/Sv * 129S6/SvEvTac J:171767
Cdontm1Rsk/Cdontm1Rsk   involves: 129/Sv * C57BL/6 J:82221
Cdontm2Rsk/Cdontm2Rsk   involves: 129/Sv * C57BL/6 J:82221
Nogtm1Amc/Nogtm1Amc
Smad3tm1Xfw/Smad3+
  involves: 129/Sv * 129S1/Sv J:161524
No similarity to the expected human disease phenotype was found.3
NOT Tgif1tm1.1Caw/Tgif1tm1.1Caw   involves: C57BL/6 * FVB/N J:97642

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.
3One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory