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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 morphology
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Accession:MP:0002653 term browser browse the term
Definition:any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord
Synonyms:exact_synonym: abnormal ependyma
 narrow_synonym: ependyma dysplasia


show annotations for term's descendants           Sort by:
abnormal ependyma morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg5 discs large MAGUK scaffold protein 5 IAGP MGI PMID:17765678 NCBI chr14:24,184,021...24,295,988
Ensembl chr14:24,184,021...24,295,988 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 IAGP MGI PMID:15496443 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 IAGP MGI PMID:15496443 NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828 		JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein IAGP MGI PMID:4784576 NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885 		JBrowse link
G Msi1 musashi RNA-binding protein 1 IAGP MGI PMID:12407178 NCBI chr 5:115,567,734...115,593,757
Ensembl chr 5:115,567,658...115,593,757 		JBrowse link
G Numb NUMB endocytic adaptor protein IAGP MGI PMID:17174898 NCBI chr12:83,840,808...83,968,708
Ensembl chr12:83,840,808...83,968,708 		JBrowse link
G Numbl numb-like IAGP MGI PMID:17174898 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 IAGP MGI PMID:15240551 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Vax1 ventral anterior homeobox 1 IAGP MGI PMID:15590934 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488 		JBrowse link
abnormal brain ependyma morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 IAGP MGI PMID:24614806 NCBI chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502 		JBrowse link
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 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 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 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 Dll3 delta like canonical Notch ligand 3 IAGP MGI PMID:9662403 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G E2f5 E2F transcription factor 5 IAGP MGI PMID:9553039 NCBI chr 3:14,638,370...14,671,369
Ensembl chr 3:14,643,701...14,671,369 		JBrowse link
G Foxj1 forkhead box J1 IAGP MGI PMID:19906869 NCBI chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225 		JBrowse link
G Lpo lactoperoxidase IAGP MGI PMID:34127712 NCBI chr11:87,697,254...87,716,750
Ensembl chr11:87,697,254...87,719,115 		JBrowse link
G Napa N-ethylmaleimide sensitive fusion protein attachment protein alpha IAGP MGI PMID:11706940 NCBI chr 7:15,832,127...15,851,907
Ensembl chr 7:15,832,383...15,851,900 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 IAGP MGI PMID:12368482 NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 IAGP MGI PMID:12368482 NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 IAGP MGI PMID:31383820 NCBI chr 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		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 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 Rnd3 Rho family GTPase 3 IAGP MGI PMID:23630292 NCBI chr 2:51,020,451...51,039,123
Ensembl chr 2:51,020,450...51,039,123 		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 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
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
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 4:12,039,363...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 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 spinal cord ependymal layer morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Napa N-ethylmaleimide sensitive fusion protein attachment protein alpha IAGP MGI PMID:11706940 NCBI chr 7:15,832,127...15,851,907
Ensembl chr 7:15,832,383...15,851,900 		JBrowse link
G Ntn1 netrin 1 IAGP MGI PMID:26257176 NCBI chr11:68,100,190...68,277,652
Ensembl chr11:68,100,190...68,291,649 		JBrowse link
G Vit vitrin IAGP MGI PMID:25331329 NCBI chr17:78,815,480...78,934,838
Ensembl chr17:78,815,493...78,934,837 		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 17097
    nervous system phenotype 4654
      abnormal nervous system morphology 3677
        abnormal ependyma morphology 59
          abnormal brain ependyma morphology + 46
          abnormal ependyma motile cilium morphology + 40
          abnormal spinal cord ependymal layer morphology + 4
paths to the root