increased or absent threshold for auditory brainstem response_Myo7a<sh1-8J>/Myo7a<+>,Ush1g<js>/Ush1g<+>

http://metadb.riken.jp/0011967B6CgMyo7ash18JUsh1gjsMyo7ash18JMyo7aUsh1gjsUsh1gMyo7ash18JUsh1gUsh1gjsMyo7a

increased or absent threshold for auditory brainstem response_Myo7a<sh1-8J>/Myo7a<+>,Ush1g<js>/Ush1g<+>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• USH1 protein network component sans
  http://metadb.riken.jp/db/mgi_rdf/MGI:2450757
• myosin VIIA
  http://metadb.riken.jp/db/mgi_rdf/MGI:104510

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Myo7a<sh1-8J>/Myo7a<+>,Ush1g<js>/Ush1g<+>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Myo7a<sh1-8J>|Ush1g<+>|Ush1g<js>|Myo7a<+>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• B6.Cg-Myo7a<sh1-8J> Ush1g<js>

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• increased or absent threshold for auditory brainstem response
  http://purl.obolibrary.org/obo/MP_0011967

文献

http://purl.org/net/cito/citesAsAuthority

• Qing Yin. Zheng, et.al., Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes., Human molecular genetics, 2012, 21
  http://rdf.ncbi.nlm.nih.gov/pubmed/22381527