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Human Disease and Mouse Model Detail
Human Disease

Term: Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF
OMIM ID: 119800

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...
Pitx1 PITX1
  mousehuman...both mouse and human orthologous genes.
     
cl none identified
Dbf none identified
Fkbp8 FKBP8
Fras1 FRAS1
Grip1 GRIP1
pma none identified
Ret RET
skc3 none identified
Tcirg1 TCIRG1
vsd none identified
  mouse...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
Pitx1tm1Rsd/Pitx1+   involves: 129S1/Sv * 129X1/SvJ J:175799
Models with phenotypic similarity to human disease where etiologies are distinct.2
cl/cl   Not Specified J:294
Dbf/Dbf+   involves: 101/H * C3H/HeH J:39106
Fkbp8tm1Kei/Fkbp8tm1Kei   involves: 129 * C57BL/6J J:132961
Fras1bl/Fras1bl   involves: 101/H * C3H/HeH J:83745
Grip1eb/Grip1eb   involves: hairless stock J:13412
pma/pma   involves: CF-1 J:8195
Rettm1Kln/Rettm1Kln
Tg(Nes-cre)1Kln/0
3 involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL J:110955
skc3/skc3   involves: C57BL/6J J:85113
Tcirg1oc/Tcirg1oc   C57BL/6J-Vps33abf J:28464
vsd/vsd   C57BL/6J-vsd J:94456

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.
3Conditionally 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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory