Yiumo Michael. Chan, et.al., Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies., Human molecular genetics, 2010, 19

http://rdf.ncbi.nlm.nih.gov/pubmed/20675713

Yiumo Michael. Chan, et.al., Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies., Human molecular genetics, 2010, 19

pubmed

allele

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

• Fkrp<tm1Itl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4834518
• Fkrp<tm1Qll>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4834519

class

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

• Fkrp<tm1Itl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4834518
• Fkrp<tm1Qll>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4834519

表現型アノテーション

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

• abnormal neuronal migration_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0006009I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal stratification in cerebral cortex_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000790I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal eye size_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0002697I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal retinal ganglion layer morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0005241I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• skeletal muscle fibrosis_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0009419I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal dentate gyrus morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000812I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• skeletal muscle fiber necrosis_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0009414I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal parietal bone morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000109I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• embryonic lethality during organogenesis, complete penetrance_Fkrp<tm1Qll>/Fkrp<tm1Qll>
  http://metadb.riken.jp/0011098NSFkrptm1QllFkrptm1QllFkrptm1Qll
• thin retinal outer nuclear layer_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0008515I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• thin retinal inner nuclear layer_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0008511I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• postnatal lethality, incomplete penetrance_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0011086I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• decreased birth body size_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0009703I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• muscle weakness_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000747I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• hydroencephaly_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0001891I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• domed cranium_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000440I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• decreased body weight_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0001262I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• centrally nucleated skeletal muscle fibers_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0009404I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• increased circulating alanine transaminase level_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0002941I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal cerebellar foliation_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000857I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• increased variability of skeletal muscle fiber size_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0009403I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• optic nerve hypoplasia_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0006221I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal brain morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0002152I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal retina inner limiting membrane morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0010235I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• neonatal lethality, incomplete penetrance_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0011088I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• increased circulating creatine kinase level_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0010090I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• corneal opacity_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0001314I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• skeletal muscle fiber degeneration_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0009412I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• limb grasping_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0001513I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• dilated lateral ventricles_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000825I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal optic disc morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0008259I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal skeletal muscle fiber morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0003084I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• dystrophic muscle_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0000752I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl
• abnormal brainstem morphology_Fkrp<tm1Itl>/Fkrp<tm1Itl>
  http://metadb.riken.jp/0005277I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl

トランスクリプトームデータ

http://rdf.ncbi.nlm.nih.gov/pubmed/

• CD29469
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD29469