increased or absent threshold for auditory brainstem response_Cdh23<v-2J>/Cdh23<+>,Myo7a<sh1-8J>/Myo7a<+>

http://metadb.riken.jp/0011967B6CgMyo7ash18JCdh23v2JCdh23v2JCdh23Myo7ash18JMyo7aMyo7aMyo7ash18JCdh23v2JCdh23

increased or absent threshold for auditory brainstem response_Cdh23<v-2J>/Cdh23<+>,Myo7a<sh1-8J>/Myo7a<+>

表現型アノテーション

MGI marker

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

• myosin VIIA
  http://metadb.riken.jp/db/mgi_rdf/MGI:104510
• cadherin 23 (otocadherin)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1890219

遺伝子型

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

• Cdh23<v-2J>/Cdh23<+>,Myo7a<sh1-8J>/Myo7a<+>

アレルシンボル

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

• Myo7a<+>|Myo7a<sh1-8J>|Cdh23<v-2J>|Cdh23<+>

遺伝的背景

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

• B6.Cg-Myo7a<sh1-8J> Cdh23<v-2J>

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