increased or absent threshold for auditory brainstem response_Pcdh15<av-3J>/Pcdh15<+>,Ush1g<js>/Ush1g<+>

http://metadb.riken.jp/0011967B6CgPcdh15av3JUsh1gjsPcdh15av3JPcdh15Ush1gjsUsh1gPcdh15av3JUsh1gjsPcdh15Ush1g

increased or absent threshold for auditory brainstem response_Pcdh15<av-3J>/Pcdh15<+>,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
• protocadherin 15
  http://metadb.riken.jp/db/mgi_rdf/MGI:1891428

遺伝子型

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

• Pcdh15<av-3J>/Pcdh15<+>,Ush1g<js>/Ush1g<+>

アレルシンボル

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

• Pcdh15<av-3J>|Ush1g<js>|Pcdh15<+>|Ush1g<+>

遺伝的背景

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

• B6.Cg-Pcdh15<av-3J> 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