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

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

pubmed

allele

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

• Tg(Hand2)#Tshir
  http://metadb.riken.jp/db/mgi_rdf/MGI:5518842

class

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

• Tg(Hand2)#Tshir
  http://metadb.riken.jp/db/mgi_rdf/MGI:5518842

表現型アノテーション

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

• clavicle hypoplasia_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0004337IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• patent ductus arteriosus_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0003139IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• hemimelia_Tg(Hand2)#Tshir/0
  http://metadb.riken.jp/0008985NSTgHand2Tshir0TgHand2Tshir
• abnormal skeleton morphology_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0005508IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• abnormal vertebral transverse process morphology_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0004600IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• decreased lumbar vertebrae number_Tg(Hand2)#Tshir/0
  http://metadb.riken.jp/0004647NSTgHand2Tshir0TgHand2Tshir
• postnatal growth retardation_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0001732IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• scoliosis_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0000161IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• abnormal lumbar vertebrae morphology_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0003049IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• abnormal zygomatic bone morphology_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0005270IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• preaxial polydactyly_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0009743IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• syndactyly_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0000564IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• abnormal cervical vertebrae morphology_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0003048IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• abnormal pollex morphology_Tg(Hand2)#Tshir/0
  http://metadb.riken.jp/0010772NSTgHand2Tshir0TgHand2Tshir
• 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
• scoliosis_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0000161IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• microcephaly_Hand2<tm1.2Zllr>/Hand2<tm1.2Zllr>,Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0000433I129C57BL6C57BL10NZBwildderivedHand2tm12ZllrHand2tm12ZllrIsIn8B28B316C11TshirIsIn8B28B316C11TshirHand2tm12ZllrIsIn8B28B316C11Tshir
• abnormal craniofacial morphology_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0000428IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• domed cranium_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0000440IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• abnormal craniofacial morphology_Hand2<tm1.2Zllr>/Hand2<tm1.2Zllr>,Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0000428I129C57BL6C57BL10NZBwildderivedHand2tm12ZllrHand2tm12ZllrIsIn8B28B316C11TshirIsIn8B28B316C11TshirHand2tm12ZllrIsIn8B28B316C11Tshir
• absent vertebral spinous process_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0004606IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• abnormal pollex morphology_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0010772IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• clinodactyly_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0006253IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• postnatal growth retardation_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0001732IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• premature death_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0002083IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• abnormal cervical vertebrae morphology_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0003048IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• abnormal cervical vertebrae morphology_Hand2<tm1.2Zllr>/Hand2<tm1.2Zllr>,Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0003048I129C57BL6C57BL10NZBwildderivedHand2tm12ZllrHand2tm12ZllrIsIn8B28B316C11TshirIsIn8B28B316C11TshirHand2tm12ZllrIsIn8B28B316C11Tshir
• hemimelia_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0008985IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir
• brachydactyly_Is(In8B2-8B3.1;6C1)1Tshir/0
  http://metadb.riken.jp/0002544IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11Tshir0IsIn8B28B316C11Tshir
• ventricular septal defect_Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
  http://metadb.riken.jp/0010402IAWySnC57BL10MmmolossinusNZBIsIn8B28B316C11TshirIsIn8B28B316C11TshirIsIn8B28B316C11Tshir

表現型アノテーション

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

• premature death in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014891
• postnatal growth retardation in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014882
• abnormal vertebral transverse process morphology in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014899
• scoliosis in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014894
• abnormal skeleton morphology in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014892
• domed cranium in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014881
• abnormal zygomatic bone morphology in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014880
• patent ductus arteriosus in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014878
• hemimelia in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014890
• abnormal cervical vertebrae morphology in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014895
• clavicle hypoplasia in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014893
• abnormal lumbar vertebrae morphology in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014896
• absent vertebral spinous process in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014898
• abnormal zone of polarizing activity morphology in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014830
• mirror image duplication in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014829
• ventricular septal defect in RBRC00609
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1014879