clavicle hypoplasia_Hand2<tm1.2Zllr>/Hand2<tm1.2Zllr>,Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir

http://metadb.riken.jp/0004337I129C57BL6C57BL10NZBwildderivedHand2tm12ZllrHand2tm12ZllrIsIn8B28B316C11TshirIsIn8B28B316C11TshirHand2tm12ZllrIsIn8B28B316C11Tshir

clavicle hypoplasia_Hand2<tm1.2Zllr>/Hand2<tm1.2Zllr>,Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir

表現型アノテーション

MGI marker

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

• heart and neural crest derivatives expressed 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:103580
• Insertion, Chr8 B2-B3.1 into Chr 6C1, Toshihiko Shiroishi 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:97926

遺伝子型

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

• Hand2<tm1.2Zllr>/Hand2<tm1.2Zllr>,Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir

アレルシンボル

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

• Hand2<tm1.2Zllr>|Is(In8B2-8B3.1;6C1)1Tshir

遺伝的背景

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

• involves: 129 * C57BL/6 * C57BL/10 * NZB * wild-derived

MP annotation

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

• clavicle hypoplasia
  http://purl.obolibrary.org/obo/MP_0004337

文献

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

• Masaru. Tamura, et.al., Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23449628