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Human Disease and Mouse Model Detail
Human Disease

Term: Oculodentodigital Dysplasia; ODDD
OMIM ID: 164200

Synonyms Oculodentoosseous Dysplasia; ODOD; ODD 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...
Gja1 GJA1
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Gja1m1Jrt/Gja1+   involves: C3H/HeJ * C57BL/6J J:101733
Gja1m1Jrt/Gja1+   involves: C3H/HeJ * C57BL/6J * FVB J:101733
Gja1tm1Dlg/Gja1tm1Dlg
Tg(GFAP-cre)1Kdmc/0		 2 involves: 129S7/SvEvBrd * C3H * C57BL/6 * C57BL/6J J:156098
Gja1tm3Gfi/Gja1+   involves: 129S1/Sv * 129X1/SvJ * CD-1 J:130575
Gja1tm8Kwi/Gja1+
Tg(Pgk1-cre)1Lni/0		 2 involves: 129S2/SvPas * BALB/c * C57BL/6 J:132032

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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory