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Human Disease and Mouse Model Detail
Human Disease

Term: Hypochondroplasia; HCH
OMIM ID: 146000

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...
     
Fgfr3 FGFR3
  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
No similarity to the expected human disease phenotype was found.1
NOT Fgfr3tm1Dor/Fgfr3tm1Dor   involves: 129S6/SvEvTac * C57BL/6 J:32991

1One 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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory