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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 ependyma motile cilium morphology
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Accession:MP:0011059 term browser browse the term
Definition:any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system
Synonyms:exact_synonym: abnormal ependyma motile cilia morphology



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abnormal ependyma motile cilium morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs1 Bardet-Biedl syndrome 1 IAGP MGI PMID:18032602 NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656
JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 IAGP MGI PMID:33347437 NCBI chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein IAGP MGI PMID:32248064 NCBI chr 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378
JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein IAGP MGI PMID:18250199 NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885
JBrowse link
G Mks1 MKS transition zone complex subunit 1 IAGP MGI PMID:23454480 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629
JBrowse link
abnormal brain ependyma motile cilium location or orientation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88c coiled-coil domain containing 88C IAGP MGI PMID:32535020 NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315
JBrowse link
G Cep164 centrosomal protein 164 IAGP MGI PMID:29244804 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989
JBrowse link
G Cetn2 centrin 2 IAGP MGI PMID:24790208 NCBI chr  X:71,957,137...71,961,967
Ensembl chr  X:71,957,138...71,962,017
JBrowse link
G Dnaaf2 dynein, axonemal assembly factor 2 IAGP MGI PMID:23525783 NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203
JBrowse link
G Jhy junctional cadherin complex regulator IAGP MGI PMID:23906841 NCBI chr 9:40,806,147...40,877,560
Ensembl chr 9:40,806,145...40,875,414
JBrowse link
G Pdcd6ip programmed cell death 6 interacting protein IAGP MGI PMID:27336173 NCBI chr 9:113,480,812...113,537,457
Ensembl chr 9:113,480,812...113,537,327
JBrowse link
abnormal brain ependyma motile cilium morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak9 adenylate kinase 9 IAGP MGI PMID:38100419 NCBI chr10:41,179,433...41,309,565
Ensembl chr10:41,179,976...41,310,530
JBrowse link
G Arl6 ADP-ribosylation factor-like 6 IAGP MGI PMID:22139371 NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 IAGP MGI PMID:23572516 NCBI chr 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626
JBrowse link
G Ccdc39 coiled-coil domain containing 39 IAGP MGI PMID:29317443 NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459
JBrowse link
G Ccp110 centriolar coiled coil protein 110 IAGP MGI PMID:26965371 NCBI chr 7:118,311,740...118,336,247
Ensembl chr 7:118,311,775...118,336,247
JBrowse link
G Cfap70 cilia and flagella associated protein 70 IAGP MGI PMID:37352829 NCBI chr14:20,444,258...20,502,332
Ensembl chr14:20,444,261...20,502,294
JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:15254016 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382
JBrowse link
G Dnaaf2 dynein, axonemal assembly factor 2 IAGP MGI PMID:23525783 NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203
JBrowse link
G Dnaaf5 dynein, axonemal assembly factor 5 IAGP MGI PMID:37104040 NCBI chr 5:139,135,888...139,172,265
Ensembl chr 5:139,135,978...139,172,265
JBrowse link
G Emx1 empty spiracles homeobox 1 IAGP MGI PMID:22705452 NCBI chr 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444
JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein IAGP MGI PMID:18250199 NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885
JBrowse link
G Jhy junctional cadherin complex regulator IAGP MGI PMID:23906841 NCBI chr 9:40,806,147...40,877,560
Ensembl chr 9:40,806,145...40,875,414
JBrowse link
G Kif6 kinesin family member 6 IAGP MGI PMID:30475797 NCBI chr17:49,922,121...50,216,875
Ensembl chr17:49,922,164...50,216,875
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP MGI PMID:30877126 NCBI chr13:113,130,104...113,138,233
Ensembl chr13:113,130,379...113,136,928
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 IAGP MGI PMID:22265411 NCBI chr 2:29,779,026...29,821,758
Ensembl chr 2:29,779,233...29,821,758
JBrowse link
G Pdcd6ip programmed cell death 6 interacting protein IAGP MGI PMID:27336173 NCBI chr 9:113,480,812...113,537,457
Ensembl chr 9:113,480,812...113,537,327
JBrowse link
G Pfdn5 prefoldin 5 IAGP MGI PMID:20956523 NCBI chr15:102,234,551...102,239,925
Ensembl chr15:102,234,551...102,240,308
JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 IAGP MGI PMID:22705452 NCBI chr10:79,690,502...79,700,269
Ensembl chr10:79,690,261...79,700,605
JBrowse link
G Rfx4 regulatory factor X, 4 (influences HLA class II expression) IAGP MGI PMID:19887680 NCBI chr10:84,591,895...84,742,402
Ensembl chr10:84,591,926...84,742,402
JBrowse link
G Rsph9 radial spoke head 9 homolog (Chlamydomonas) IAGP MGI PMID:32709945 NCBI chr17:46,432,964...46,455,171
Ensembl chr17:46,432,961...46,455,142
JBrowse link
G Tmem67 transmembrane protein 67 IAGP MGI PMID:23283079 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
G Ulk4 unc-51-like kinase 4 IAGP MGI PMID:27445138 NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263
JBrowse link
G Zmynd10 zinc finger, MYND domain containing 10 IAGP MGI PMID:29601588 NCBI chr 9:107,424,067...107,428,520
Ensembl chr 9:107,424,497...107,428,518
JBrowse link
abnormal spinal cord motile cilium morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx4 regulatory factor X, 4 (influences HLA class II expression) IAGP MGI PMID:19887680 NCBI chr10:84,591,895...84,742,402
Ensembl chr10:84,591,926...84,742,402
JBrowse link
absent brain ependyma motile cilia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 IAGP MGI PMID:23150167 NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031
JBrowse link
G Cep120 centrosomal protein 120 IAGP MGI PMID:25251415 NCBI chr18:53,814,795...53,877,825
Ensembl chr18:53,814,795...53,877,680
JBrowse link
G Cfap54 cilia and flagella associated protein 54 IAGP MGI PMID:26224312 NCBI chr10:92,611,471...92,919,085
Ensembl chr10:92,611,481...92,917,480
JBrowse link
G Foxj1 forkhead box J1 IAGP MGI PMID:9739041 PMID:10873152 NCBI chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225
JBrowse link
G Gmnc geminin coiled-coil domain containing IAGP MGI PMID:26933123 NCBI chr16:26,775,985...26,810,424
Ensembl chr16:26,732,303...26,810,402
JBrowse link
G Ulk4 unc-51-like kinase 4 IAGP MGI PMID:27445138 NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263
JBrowse link
G Wasl WASP like actin nucleation promoting factor IAGP MGI PMID:24462670 NCBI chr 6:24,613,809...24,665,185
Ensembl chr 6:24,613,804...24,665,008
JBrowse link
decreased brain ependyma motile cilium length term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak9 adenylate kinase 9 IAGP MGI PMID:38100419 NCBI chr10:41,179,433...41,309,565
Ensembl chr10:41,179,976...41,310,530
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 IAGP MGI PMID:23572516 NCBI chr 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein IAGP MGI PMID:32248064 NCBI chr 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378
JBrowse link
G Jhy junctional cadherin complex regulator IAGP MGI PMID:23906841 NCBI chr 9:40,806,147...40,877,560
Ensembl chr 9:40,806,145...40,875,414
JBrowse link
G Trip6 thyroid hormone receptor interactor 6 IAGP MGI PMID:34620853 NCBI chr 5:137,308,160...137,312,469
Ensembl chr 5:137,307,916...137,312,666
JBrowse link
G Ulk4 unc-51-like kinase 4 IAGP MGI PMID:21746835 NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263
JBrowse link
decreased brain ependyma motile cilium number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor-like 6 IAGP MGI PMID:22139371 NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 IAGP MGI PMID:23572516 NCBI chr 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626
JBrowse link
G Cep164 centrosomal protein 164 IAGP MGI PMID:29244804 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989
JBrowse link
G Cfap70 cilia and flagella associated protein 70 IAGP MGI PMID:37352829 NCBI chr14:20,444,258...20,502,332
Ensembl chr14:20,444,261...20,502,294
JBrowse link
G Cwh43 cell wall biogenesis 43 C-terminal homolog IAGP MGI PMID:33459505 NCBI chr 5:73,563,394...73,610,778
Ensembl chr 5:73,563,418...73,610,778
JBrowse link
G Jhy junctional cadherin complex regulator IAGP MGI PMID:23906841 NCBI chr 9:40,806,147...40,877,560
Ensembl chr 9:40,806,145...40,875,414
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 IAGP MGI PMID:22265411 NCBI chr 2:29,779,026...29,821,758
Ensembl chr 2:29,779,233...29,821,758
JBrowse link
G Pfdn5 prefoldin 5 IAGP MGI PMID:20956523 NCBI chr15:102,234,551...102,239,925
Ensembl chr15:102,234,551...102,240,308
JBrowse link
G Trip6 thyroid hormone receptor interactor 6 IAGP MGI PMID:34620853 NCBI chr 5:137,308,160...137,312,469
Ensembl chr 5:137,307,916...137,312,666
JBrowse link
increased brain ependyma motile cilium length term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 IAGP MGI PMID:33475699 NCBI chr19:38,043,423...38,062,873
Ensembl chr19:38,043,459...38,062,871
JBrowse link
G Kif19a kinesin family member 19A IAGP MGI PMID:23168168 NCBI chr11:114,656,227...114,681,565
Ensembl chr11:114,656,214...114,681,565
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16725
    nervous system phenotype 4606
      abnormal nervous system morphology 3649
        abnormal ependyma morphology 59
          abnormal ependyma motile cilium morphology 40
            abnormal brain ependyma motile cilium morphology + 37
            abnormal spinal cord motile cilium morphology 1
Path 2
Term Annotations click to browse term
  mammalian phenotype 16725
    cellular phenotype 5389
      abnormal cell morphology 1966
        abnormal cilium morphology 462
          abnormal motile cilium morphology 390
            abnormal ependyma motile cilium morphology 40
              abnormal brain ependyma motile cilium morphology + 37
              abnormal spinal cord motile cilium morphology 1
paths to the root