short nasal bone_Sh3pxd2b<Gt(GST_1527_E5)Lex>/Sh3pxd2b<Gt(GST_1527_E5)Lex>

http://metadb.riken.jp/0004471I129X1SvJC57BL6Sh3pxd2bGtGST1527E5LexSh3pxd2bGtGST1527E5LexSh3pxd2bGtGST1527E5Lex

short nasal bone_Sh3pxd2b<Gt(GST_1527_E5)Lex>/Sh3pxd2b<Gt(GST_1527_E5)Lex>

表現型アノテーション

MGI marker

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

• SH3 and PX domains 2B
  http://metadb.riken.jp/db/mgi_rdf/MGI:2442062

遺伝子型

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

• Sh3pxd2b<Gt(GST_1527_E5)Lex>/Sh3pxd2b<Gt(GST_1527_E5)Lex>

アレルシンボル

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

• Sh3pxd2b<Gt(GST_1527_E5)Lex>

遺伝的背景

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

• involves: 129X1/SvJ * C57BL/6

MP annotation

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

• short nasal bone
  http://purl.obolibrary.org/obo/MP_0004471

文献

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

• Zafar. Iqbal, et.al., Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome., American journal of human genetics, 2010, 86
  http://rdf.ncbi.nlm.nih.gov/pubmed/20137777