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Human Disease and Mouse Model Detail
Human Disease

Term: Campomelic Dysplasia
OMIM ID: 114290

Synonyms Cmd1; CMPD1; CMPD
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...
Sox9 SOX9
  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
Sox9tm1.1Gsr/Sox9+   involves: 129P2/OlaHsd * C57BL/6 J:75124
Sox9tm1Crm/Sox9+   involves: 129S7/SvEvBrd * C57BL/6 * CD-1 J:69875
Sox9tm1Gsr/Sox9+
Tg(Pdx1-cre)6Cvw/0		 2 involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * FVB/N J:141017
Sox9tm2Crm/Sox9+
Tg(Col2a1-cre)1Bhr/0		 2 involves: 129S/SvEv * C57BL/6 * SJL J:79879
Sox9tm2Crm/Sox9tm2Crm
Tg(Col2a1-cre)1Bhr/0		 2 involves: 129S/SvEv * C57BL/6 * SJL J:79879
Sox9tm2Crm/Sox9+
Tg(Prrx1-cre)1Cjt/0		 2 involves: 129S/SvEv * C57BL/6J * SJL/J J:79879
Sox9tm2Crm/Sox9tm2Crm
Tg(Prrx1-cre)1Cjt/0		 2 involves: 129S/SvEv * C57BL/6J * SJL/J J:79879

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