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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:hearing/vestibular/ear phenotype
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Accession:MP:0005377 term browser browse the term
Definition:the observable morphological and physiological characteristics of mammalian system responsible for the perception of spatial orientation and auditory stimuli that are manifested through development and lifespan


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abnormal auditory brainstem response term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 IMP peak amplitudes and transmission latency RGD PMID:30126973 RGD:126790476 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP peak amplitudes and transmission latency RGD PMID:30126973 RGD:126790476
G Myo7a myosin VIIA IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Myo7atnd/Hubr myosin VIIA; ENU induced tornado mutant, Hubr IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470
G Shank2 SH3 and multiple ankyrin repeat domains 2 IMP RGD PMID:29970986 RGD:126790534 NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394 		JBrowse link
G Shank2em13Sage SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage IMP RGD PMID:29970986 RGD:126790534
abnormal cochlear hair cell stereociliary bundle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Myo7atnd/Hubr myosin VIIA; ENU induced tornado mutant, Hubr IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470
abnormal vestibular system physiology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Myo7atnd/Hubr myosin VIIA; ENU induced tornado mutant, Hubr IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470
absent otoliths term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain IAGP DNA:deletion:splice junction: RGD PMID:19406829 RGD:11040542 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi IAGP DNA:deletion:splice junction: RGD PMID:19406829 RGD:11040542
increased or absent threshold for auditory brainstem response term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 IAGP DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto IAGP RGD PMID:16368876 RGD:1581602
syndromic hearing loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP RGD PMID:21915282 RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
thin stria vascularis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP RGD PMID:21915282 RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5380
    hearing/vestibular/ear phenotype 23
      abnormal ear morphology + 12
      abnormal ear physiology + 19
paths to the root