abnormal lymphocyte cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>

http://metadb.riken.jp/0000717I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa

abnormal lymphocyte cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>

表現型アノテーション

MGI marker

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

• ligase IV, DNA, ATP-dependent
  http://metadb.riken.jp/db/mgi_rdf/MGI:1335098

遺伝子型

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

• Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>

アレルシンボル

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

• Lig4<tm2.1Fwa>

遺伝的背景

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

• involves: 129S6/SvEvTac

MP annotation

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

• abnormal lymphocyte cell number
  http://purl.obolibrary.org/obo/MP_0000717

文献

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

• Francesca. Rucci, et.al., Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome., Proceedings of the National Academy of Sciences of the United States of America, 2010, 107
  http://rdf.ncbi.nlm.nih.gov/pubmed/20133615