abnormal retinal rod cell outer segment morphology_Lrat<tm1Kpal>/Lrat<tm1Kpal>,Rho<tm1.1Kpal>/Rho<+>,Rpe65<450L>/Rpe65<450M>

http://metadb.riken.jp/0008456I129S6SvEvTacC57BL6FVBNLrattm1KpalLrattm1KpalRhotm11KpalRhoRpe65450LRpe65450MRhoRpe65450MRpe65450LRhotm11KpalLrattm1Kpal

abnormal retinal rod cell outer segment morphology_Lrat<tm1Kpal>/Lrat<tm1Kpal>,Rho<tm1.1Kpal>/Rho<+>,Rpe65<450L>/Rpe65<450M>

表現型アノテーション

MGI marker

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

• retinal pigment epithelium 65
  http://metadb.riken.jp/db/mgi_rdf/MGI:98001
• rhodopsin
  http://metadb.riken.jp/db/mgi_rdf/MGI:97914
• lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1891259

遺伝子型

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

• Lrat<tm1Kpal>/Lrat<tm1Kpal>,Rho<tm1.1Kpal>/Rho<+>,Rpe65<450L>/Rpe65<450M>

アレルシンボル

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

• Rho<+>|Rpe65<450M>|Rpe65<450L>|Rho<tm1.1Kpal>|Lrat<tm1Kpal>

遺伝的背景

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

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

MP annotation

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

• abnormal retinal rod cell outer segment morphology
  http://purl.obolibrary.org/obo/MP_0008456

文献

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

• Sanae. Sakami, et.al., Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations., The Journal of biological chemistry, 2011, 286
  http://rdf.ncbi.nlm.nih.gov/pubmed/21224384