abnormal orientation of outer hair cell stereociliary bundles_Mks1<hlb614>/Mks1<hlb614>

http://metadb.riken.jp/0004491IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614

abnormal orientation of outer hair cell stereociliary bundles_Mks1<hlb614>/Mks1<hlb614>

表現型アノテーション

MGI marker

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

• Meckel syndrome, type 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:3584243

遺伝子型

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

• Mks1<hlb614>/Mks1<hlb614>

アレルシンボル

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

• Mks1<hlb614>

遺伝的背景

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

• involves: C3H * C57BL/6

MP annotation

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

• abnormal orientation of outer hair cell stereociliary bundles
  http://purl.obolibrary.org/obo/MP_0004491

文献

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

• Cheng. Cui, et.al., Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome., Disease models & mechanisms, 2011, 4
  http://rdf.ncbi.nlm.nih.gov/pubmed/21045211