abnormal frontonasal mesenchyme morphology_Sox10<tm1Weg>/Sox10<tm1Weg>

http://metadb.riken.jp/0011266I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg

abnormal frontonasal mesenchyme morphology_Sox10<tm1Weg>/Sox10<tm1Weg>

表現型アノテーション

MGI marker

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

• SRY (sex determining region Y)-box 10
  http://metadb.riken.jp/db/mgi_rdf/MGI:98358

遺伝子型

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

• Sox10<tm1Weg>/Sox10<tm1Weg>

アレルシンボル

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

• Sox10<tm1Weg>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• abnormal frontonasal mesenchyme morphology
  http://purl.obolibrary.org/obo/MP_0011266

文献

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

• Veronique. Pingault, et.al., Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness., American journal of human genetics, 2013, 92
  http://rdf.ncbi.nlm.nih.gov/pubmed/23643381