proximal convoluted tubule brush border loss_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>

http://metadb.riken.jp/0011352I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins

proximal convoluted tubule brush border loss_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>

表現型アノテーション

MGI marker

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

• phosphomannomutase 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1859214

遺伝子型

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

• Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>

アレルシンボル

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

• Pmm2<tm1.1Jins>|Pmm2<tm2.1Jins>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6J

MP annotation

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

• proximal convoluted tubule brush border loss
  http://purl.obolibrary.org/obo/MP_0011352

文献

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

• Barden. Chan, et.al., A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2., Human molecular genetics, 2016, 25
  http://rdf.ncbi.nlm.nih.gov/pubmed/27053713