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 cerebral aqueduct morphology
Accession: MP:0005537
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Definition: any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles
Synonyms: exact_synonym: abnormal Sylvian aqueduct morphology; abnormal aqueduct of Sylvius; abnormal aqueduct of midbrain morphology; abnormal aqueductus mesencephali morphology; abnormal mesencephalic duct morphology; abnormal mesencephalic vesicle morphology; abnormal midbrain cerebral aqueduct morphology
related_synonym: abnormal cerebral aqueduct of Sylvius morphology
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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
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Ddb1
damage specific DNA binding protein 1
IAGP
MGI
PMID:17129780
NCBI chr19:10,582,961...10,607,186
Ensembl chr19:10,582,691...10,607,183
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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
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Erbb3
erb-b2 receptor tyrosine kinase 3
IAGP
MGI
PMID:9362461
NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
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Foxc1
forkhead box C1
IEA
MGI
NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
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Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
IAGP
MGI
PMID:37463454
NCBI chr X:133,501,928...133,507,809
Ensembl chr X:133,501,928...133,507,809
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Htt
huntingtin
IAGP
MGI
PMID:9398841
NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878
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Hydin
HYDIN, axonemal central pair apparatus protein
IAGP
MGI
PMID:4732188
NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885
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L1cam
L1 cell adhesion molecule
IAGP
MGI
PMID:9580664 PMID:11164829
NCBI chr X:72,897,384...72,924,843
Ensembl chr X:72,897,384...72,939,711
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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
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Myh10
myosin heavy chain 10, non-muscle
IAGP
MGI
PMID:20861308
NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458
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Myo9a
myosin IXa
IAGP
MGI
PMID:19828736
NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149
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Napa
N-ethylmaleimide sensitive fusion protein attachment protein alpha
IAGP
MGI
PMID:14575238
NCBI chr 7:15,832,127...15,851,907
Ensembl chr 7:15,832,383...15,851,900
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Nek1
NIMA (never in mitosis gene a)-related expressed kinase 1
IAGP
MGI
PMID:9070925
NCBI chr 8:61,446,184...61,584,383
Ensembl chr 8:61,446,229...61,584,380
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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
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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
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Rhob
ras homolog family member B
IAGP
MGI
PMID:19828736
NCBI chr12:8,547,661...8,550,009
Ensembl chr12:8,547,661...8,550,009
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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
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Uchl5
ubiquitin carboxyl-terminal esterase L5
IAGP
MGI
PMID:21048919
NCBI chr 1:143,652,993...143,683,204
Ensembl chr 1:143,653,010...143,683,204
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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
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Kdm2b
lysine (K)-specific demethylase 2B
IAGP
MGI
PMID:21220025
NCBI chr 5:123,008,727...123,127,333
Ensembl chr 5:123,008,728...123,127,886
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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
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Ccdc85c
coiled-coil domain containing 85C
IAGP
MGI
PMID:15283996
NCBI chr12:108,169,858...108,244,111
Ensembl chr12:108,169,861...108,241,684
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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
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Cfap206
cilia and flagella associated protein 206
IAGP
MGI
PMID:32376681
NCBI chr 4:34,688,574...34,730,263
Ensembl chr 4:34,688,559...34,730,206
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Katnip
katanin interacting protein
IAGP
MGI
PMID:26714646
NCBI chr 7:125,307,027...125,473,967
Ensembl chr 7:125,307,060...125,473,965
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Rfx4
regulatory factor X, 4 (influences HLA class II expression)
IAGP
MGI
PMID:12925582
NCBI chr10:84,591,895...84,742,402
Ensembl chr10:84,591,926...84,742,402
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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
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
IAGP
MGI
PMID:37219662
NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451
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Sptan1
spectrin alpha, non-erythrocytic 1
IAGP
MGI
PMID:22159418
NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463
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Ulk4
unc-51-like kinase 4 (C. elegans)
IAGP
MGI
PMID:27445138
NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263
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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
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Dscam
DS cell adhesion molecule
IAGP
MGI
PMID:21904980
NCBI chr16:96,388,652...96,971,935
Ensembl chr16:96,392,040...96,971,952
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En1
engrailed 1
IAGP
MGI
PMID:18480159
NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721
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Gli3
GLI-Kruppel family member GLI3
IAGP
MGI
PMID:18480159
NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
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Gpr161
G protein-coupled receptor 161
IAGP
MGI
PMID:34887903
NCBI chr 1:165,108,760...165,154,314
Ensembl chr 1:165,123,358...165,154,314
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H2az2
H2A.Z histone variant 2
IAGP
MGI
PMID:34887903
NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
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Htt
huntingtin
IAGP
MGI
PMID:9398841
NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878
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Npas3
neuronal PAS domain protein 3
IAGP
MGI
PMID:16190882
NCBI chr12:53,294,874...54,118,956
Ensembl chr12:53,294,940...54,118,958
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Otx1
orthodenticle homeobox 1
IAGP
MGI
PMID:9077465
NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897
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Otx2
orthodenticle homeobox 2
IAGP
MGI
PMID:9077465
NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
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Smo
smoothened, frizzled class receptor
IAGP
MGI
PMID:18480159
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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