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Human Disease and Mouse Model Detail
Human Disease

Term: Ciliary Dyskinesia, Primary, 1; CILD1
OMIM ID: 244400

Synonyms Ciliary Dyskinesia, Primary, 1, with or without Situs Inversus; Immotile Cilia Syndrome; ICS; Pcd
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...
Dnaic1 DNAI1
  mousehuman...both mouse and human orthologous genes.
     
Ak7 AK7
b2b1116Clo none identified
b2b1146Clo none identified
b2b1167Clo none identified
b2b1200.1Clo none identified
b2b1200Clo none identified
b2b1304Clo none identified
b2b1526Clo none identified
b2b1549Clo none identified
b2b1584Clo none identified
b2b1654Clo none identified
b2b1660Clo none identified
b2b1700Clo none identified
b2b1735Clo none identified
b2b1739Clo none identified
b2b1885Clo none identified
b2b227.1Clo none identified
b2b227Clo none identified
Cby1 CBY1
Dnahc11 DNAH11
Dnahc5 DNAH5
Dpcd DPCD
Foxj1 FOXJ1
Ttll1 TTLL1
  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
Dnaic1b2b284Clo/Dnaic1b2b284Clo   C57BL/6J-Dnaic1b2b284Clo J:175213
Dnaic1tm1.1Leo/Dnaic1tm1.1Leo
Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
3 involves: 129 * C57BL/6 J:155730
Models with phenotypic similarity to human disease where etiologies are distinct.2
Ak7Tg(tetO-Hmox1)67Sami/Ak7Tg(tetO-Hmox1)67Sami   FVB/N-Ak7Tg(tetO-Hmox1)67Sami J:186062
b2b1116Clo/b2b1116Clo   C57BL/6J-b2b1116Clo J:175213
b2b1146Clo/b2b1146Clo   C57BL/6J-b2b1146Clo J:175213
b2b1167Clo/b2b1167Clo   C57BL/6J-b2b1167Clo J:175213
b2b1200.1Clo/b2b1200.1Clo   C57BL/6J-b2b1200.1Clo J:175213
b2b1200Clo/b2b1200Clo   C57BL/6J-b2b1200Clo J:175213
b2b1304Clo/b2b1304Clo   C57BL/6J-b2b1304Clo J:175213
b2b1526Clo/b2b1526Clo   C57BL/6J-b2b1526Clo J:175213
b2b1549Clo/b2b1549Clo   C57BL/6J-b2b1549Clo J:175213
b2b1584Clo/b2b1584Clo   C57BL/6J-b2b1584Clo J:175213
b2b1654Clo/b2b1654Clo   C57BL/6J-b2b1654Clo J:175213
b2b1660Clo/b2b1660Clo   C57BL/6J-b2b1660Clo J:175213
b2b1700Clo/b2b1700Clo   C57BL/6J-b2b1700Clo J:175213
b2b1735Clo/b2b1735Clo   C57BL/6J-b2b1735Clo J:175213
b2b1739Clo/b2b1739Clo   C57BL/6J-b2b1739Clo J:175213
b2b1885Clo/b2b1885Clo   C57BL/6J-b2b1885Clo J:175213
b2b227.1Clo/b2b227.1Clo   C57BL/6J-b2b227.1Clo J:175213
b2b227Clo/b2b227Clo   C57BL/6J-b2b227Clo J:175213
Cby1tm1Ktkm/Cby1tm1Ktkm   B6.129-Cby1tm1Ktkm J:147413, J:166685
Dnahc11b2b1727Clo/Dnahc11b2b1727Clo   C57BL/6J-Dnahc11b2b1727Clo J:175213
Dnahc11b2b1775Clo/Dnahc11b2b1775Clo   C57BL/6J-Dnahc11b2b1775Clo J:175213
Dnahc5b2b1003Clo/Dnahc5b2b1003Clo   C57BL/6J-Dnahc5b2b1003Clo J:175213
Dnahc5b2b1537Clo/Dnahc5b2b1537Clo   C57BL/6J-Dnahc5b2b1537Clo J:175213
Dnahc5b2b1565Clo/Dnahc5b2b1565Clo   C57BL/6J-Dnahc5b2b1565Clo J:175213
Dnahc5b2b601Clo/Dnahc5b2b601Clo   C57BL/6J-Dnahc5b2b601Clo J:175213
Dpcd/Polltm1Nmt/Dpcd/Polltm1Nmt   involves: 129P2/OlaHsd J:75779
Dpcd/PollGt(OST280355)Lex/Dpcd/PollGt(OST280355)Lex   involves: 129S5/SvEvBrd * C57BL/6Brd-Tyrc-Brd J:171184
Foxj1tm1Bph/Foxj1tm1Bph   involves: 129S1/Sv * 129X1/SvJ * Black Swiss J:50025
Foxj1tm1Slb/Foxj1tm1Slb   involves: 129X1/SvJ J:73616
Ttll1tm1Seto/Ttll1tm1Seto   involves: 129S/SvEv * C57BL/6 J:161297

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