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

Barden. Chan, et.al., A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2., Human molecular genetics, 2016, 25

pubmed

allele

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

• Pmm2<tm1.1Jins>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5811780
• Pmm2<tm2.1Jins>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5811781

表現型アノテーション

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

• thin interventricular septum_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0010725I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• Mallory bodies_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0014045I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• abnormal myocardium layer morphology_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0005329I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• kyphosis_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0000160I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• abnormal eye morphology_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0002092I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• abnormal blood homeostasis_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0009642I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• premature death_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0002083I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• abnormal proximal convoluted tubule morphology_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0004756I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• hypotonia_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0004144I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• abnormal fontanelle morphology_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0000084I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• proximal convoluted tubule brush border loss_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0011352I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• decreased body weight_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0001262I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• prenatal lethality, incomplete penetrance_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0011101I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• dilated proximal convoluted tubules_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0009050I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• thin ventricular wall_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0000280I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• abnormal myocardial fiber morphology_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0000278I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• decreased circulating antithrombin level_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0012325I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• decreased body size_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0001265I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• prenatal lethality, complete penetrance_Pmm2<tm2.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0011091I129S6SvEvTacC57BL6JPmm2tm21JinsPmm2tm21JinsPmm2tm21Jins
• decreased circulating insulin-like growth factor I level_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0004701I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins
• prenatal lethality, incomplete penetrance_Pmm2<tm1.1Jins>/Pmm2<tm1.1Jins>
  http://metadb.riken.jp/0011101I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm11JinsPmm2tm11Jins
• abnormal vertebral column morphology_Pmm2<tm1.1Jins>/Pmm2<tm2.1Jins>
  http://metadb.riken.jp/0004703I129S6SvEvTacC57BL6JPmm2tm11JinsPmm2tm21JinsPmm2tm11JinsPmm2tm21Jins

class

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

• Pmm2<tm1.1Jins>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5811780
• Pmm2<tm2.1Jins>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5811781