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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:abnormal primary cilium physiology
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Accession:MP:0013210 term browser browse the term
Definition:any functional anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors



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abnormal primary cilium physiology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk20 cyclin dependent kinase 20 IAGP MGI PMID:28817564 NCBI chr13:64,580,133...64,587,536
Ensembl chr13:64,580,128...64,589,587
JBrowse link
abnormal kidney epithelial cell primary cilium physiology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd1 polycystin 1, transient receptor potential channel interacting IAGP MGI PMID:12514735 NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482
JBrowse link
abnormal motile primary cilium physiology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicc1 BicC family RNA binding protein 1 IAGP MGI PMID:19666828 NCBI chr10:70,758,660...70,995,581
Ensembl chr10:70,758,662...70,995,530
JBrowse link
G Cfap45 cilia and flagella associated protein 45 IAGP MGI PMID:33139725 NCBI chr 1:172,348,697...172,373,437
Ensembl chr 1:172,348,368...172,373,437
JBrowse link
G Cimap3 ciliary microtubule associated protein 3 IAGP MGI PMID:20643351 NCBI chr 3:105,904,273...105,921,962
Ensembl chr 3:105,904,273...105,921,962
JBrowse link
G Clxn calaxin IAGP MGI PMID:31240264 NCBI chr16:14,724,315...14,786,925
Ensembl chr16:14,724,470...14,799,235
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 IAGP MGI PMID:27353389 NCBI chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 IAGP MGI PMID:10556073 PMID:12859898 NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778
JBrowse link
G Invs inversin IAGP MGI PMID:10549278 NCBI chr 4:48,279,707...48,431,956
Ensembl chr 4:48,279,760...48,431,954
JBrowse link
G Noto notochord homeobox IAGP MGI PMID:22357932 NCBI chr 6:85,400,851...85,405,859
Ensembl chr 6:85,400,868...85,405,859
JBrowse link
G Pierce1 piercer of microtubule wall 1 IAGP MGI PMID:34715025 NCBI chr 2:28,352,013...28,356,336
Ensembl chr 2:28,352,013...28,356,344
JBrowse link
G Pierce2 piercer of microtubule wall 2 IAGP MGI PMID:34715025 NCBI chr 9:72,886,999...72,892,658
Ensembl chr 9:72,886,964...72,892,674
JBrowse link
G Tbx6 T-box 6 IAGP MGI PMID:18575602 NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
JBrowse link
G Vangl1 VANGL planar cell polarity 1 IAGP MGI PMID:20562861 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009
JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:20562861 NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011
JBrowse link
absent nodal flow term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah11 dynein, axonemal, heavy chain 11 IAGP MGI PMID:10549278 PMID:10556073 NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778
JBrowse link
G Foxj1 forkhead box J1 IAGP MGI PMID:22357932 NCBI chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225
JBrowse link
G Ift46 intraflagellar transport 46 IAGP MGI PMID:25722189 NCBI chr 9:44,683,074...44,704,011
Ensembl chr 9:44,679,205...44,704,744
JBrowse link
G Kif3a kinesin family member 3A IAGP MGI PMID:10330409 NCBI chr11:53,456,531...53,495,075
Ensembl chr11:53,458,206...53,492,794
JBrowse link
G Mks1 MKS transition zone complex subunit 1 IAGP MGI PMID:21045211 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629
JBrowse link
G Noto notochord homeobox IAGP MGI PMID:22357932 NCBI chr 6:85,400,851...85,405,859
Ensembl chr 6:85,400,868...85,405,859
JBrowse link
G Odad4 outer dynein arm complex subunit 4 IAGP MGI PMID:27486780 NCBI chr11:100,436,434...100,463,392
Ensembl chr11:100,436,433...100,463,394
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17108
    cellular phenotype 5488
      abnormal cell physiology 4944
        abnormal cilium physiology 60
          abnormal primary cilium physiology 20
            abnormal motile primary cilium physiology + 18
            abnormal nonmotile primary cilium physiology + 1
paths to the root