neonatal lethality, incomplete penetrance_Dp(16Dgcr2-Arvcf)1Ais/Del(16Dgcr2-Hira)1Rak

http://metadb.riken.jp/0011088I129Sv129S6SvEvTacC57BL6FVBNSJLDp16Dgcr2Arvcf1AisDel16Dgcr2Hira1RakDel16Dgcr2Hira1RakDp16Dgcr2Arvcf1Ais

neonatal lethality, incomplete penetrance_Dp(16Dgcr2-Arvcf)1Ais/Del(16Dgcr2-Hira)1Rak

表現型アノテーション

MGI marker

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

• deletion, Chr 16, Raju Kucherlapati 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:3702641
• duplication, Chr 16, Arthur I Skoultchi 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:3702629

遺伝子型

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

• Dp(16Dgcr2-Arvcf)1Ais/Del(16Dgcr2-Hira)1Rak

アレルシンボル

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

• Del(16Dgcr2-Hira)1Rak|Dp(16Dgcr2-Arvcf)1Ais

遺伝的背景

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

• involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

MP annotation

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

• partial neonatal lethality
  http://purl.obolibrary.org/obo/MP_0011088

文献

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

• S. Merscher, et.al., TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome., Cell, 2001, 104
  http://rdf.ncbi.nlm.nih.gov/pubmed/11239417