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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 facial muscle morphology
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Accession:MP:0030039 term browser browse the term
Definition:any structural anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch
Synonyms:exact_synonym: abnormal facial musculature morphology;   facial muscle dysplasia
 broad_synonym: facial muscle abnormalities


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abnormal facial muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat1 FAT atypical cadherin 1 IAGP MGI PMID:23785297 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:10499586 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
abnormal buccinator muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
abnormal depressor anguli oris muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
abnormal masseter muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1 colony stimulating factor 1 (macrophage) IEA MGI NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785 		JBrowse link
G Ednra endothelin receptor type A IAGP MGI PMID:19017795 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 IAGP MGI PMID:7749225 NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		JBrowse link
G Pak1ip1 PAK1 interacting protein 1 IAGP MGI PMID:23935987 NCBI chr13:41,154,486...41,166,509
Ensembl chr13:41,154,499...41,166,491 		JBrowse link
abnormal masticatory muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsc goosecoid homeobox IAGP MGI PMID:7555718 NCBI chr12:104,437,468...104,439,495
Ensembl chr12:104,437,468...104,439,589 		JBrowse link
G Morc2a microrchidia 2A IEA MGI NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		JBrowse link
G Msc musculin IAGP MGI PMID:12493912 NCBI chr 1:14,823,570...14,826,216
Ensembl chr 1:14,823,570...14,826,216 		JBrowse link
G Tcf21 transcription factor 21 IAGP MGI PMID:12493912 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
abnormal orbicularis oculi muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B IAGP MGI PMID:32160553 NCBI chr 6:13,069,758...13,089,268
Ensembl chr 6:13,069,758...13,089,268 		JBrowse link
abnormal pterygoid muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 IAGP MGI PMID:10433912 NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085 		JBrowse link
G Msc musculin IAGP MGI PMID:12493912 NCBI chr 1:14,823,570...14,826,216
Ensembl chr 1:14,823,570...14,826,216 		JBrowse link
G Tcf21 transcription factor 21 IAGP MGI PMID:12493912 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
abnormal temporalis muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 IAGP MGI PMID:7749225 NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		JBrowse link
abnormal zygomaticus muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
absent facial muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 IAGP MGI PMID:10529420 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 PMID:10529420 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:16452092 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
absent levator labii superioris muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 IAGP MGI PMID:10529420 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hoxb1 homeobox B1 IAGP MGI PMID:10529420 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
absent levator nasolabialis muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
G Hoxb2 homeobox B2 IAGP MGI PMID:9012503 NCBI chr11:96,242,458...96,244,846
Ensembl chr11:96,241,351...96,244,838 		JBrowse link
absent masseter muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxg1 forkhead box G1 IAGP MGI PMID:16452092 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Msc musculin IAGP MGI PMID:12493912 NCBI chr 1:14,823,570...14,826,216
Ensembl chr 1:14,823,570...14,826,216 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:15190012 PMID:16452092 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tcf21 transcription factor 21 IAGP MGI PMID:12493912 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
absent orbicularis oculi muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 IAGP MGI PMID:10529420 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hoxb1 homeobox B1 IAGP MGI PMID:10529420 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
absent pterygoid muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxg1 forkhead box G1 IAGP MGI PMID:16452092 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Msc musculin IAGP MGI PMID:12493912 NCBI chr 1:14,823,570...14,826,216
Ensembl chr 1:14,823,570...14,826,216 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:15190012 PMID:16452092 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tcf21 transcription factor 21 IAGP MGI PMID:12493912 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
absent stapedius muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa2 homeobox A2 IAGP MGI PMID:7903601 NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811 		JBrowse link
absent temporalis muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msc musculin IAGP MGI PMID:12493912 NCBI chr 1:14,823,570...14,826,216
Ensembl chr 1:14,823,570...14,826,216 		JBrowse link
G Tcf21 transcription factor 21 IAGP MGI PMID:12493912 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
absent zygomaticus muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 IAGP MGI PMID:10529420 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hoxb1 homeobox B1 IAGP MGI PMID:10529420 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
facial muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin alpha 1, skeletal muscle IAGP MGI PMID:22067542 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Hoxb2 homeobox B2 IAGP MGI PMID:9012503 NCBI chr11:96,242,458...96,244,846
Ensembl chr11:96,241,351...96,244,838 		JBrowse link
G Vps54 VPS54 GARP complex subunit IAGP MGI PMID:5709840 NCBI chr11:21,189,032...21,271,133
Ensembl chr11:21,189,281...21,271,136 		JBrowse link
facial muscle degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
facial muscle hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 IAGP MGI PMID:21364285 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Six1 sine oculis-related homeobox 1 IAGP MGI PMID:21364285 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
orbicularis oculi muscle hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfa transforming growth factor alpha IAGP MGI PMID:8477445 NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16532
    muscle phenotype 1918
      abnormal muscle morphology 1406
        abnormal skeletal muscle morphology 635
          abnormal facial muscle morphology 23
            abnormal buccinator muscle morphology 1
            abnormal depressor anguli oris muscle morphology 1
            abnormal eyelid muscle morphology + 4
            abnormal levator labii superioris muscle morphology + 2
            abnormal levator nasolabialis muscle morphology + 2
            abnormal masticatory muscle morphology + 12
            abnormal stapedius muscle morphology + 1
            abnormal zygomaticus muscle morphology + 2
            absent facial muscle + 3
            facial muscle atrophy 3
            facial muscle degeneration 1
            facial muscle hypoplasia + 3
paths to the root