abnormal retinal pigment epithelium morphology_Ppt2<tm1Hof>/Ppt2<tm1Hof>

http://metadb.riken.jp/0005201I129S6SvEvTacC57BL6JPpt2tm1HofPpt2tm1HofPpt2tm1Hof

abnormal retinal pigment epithelium morphology_Ppt2<tm1Hof>/Ppt2<tm1Hof>

表現型アノテーション

MGI marker

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

• palmitoyl-protein thioesterase 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1860075

遺伝子型

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

• Ppt2<tm1Hof>/Ppt2<tm1Hof>

アレルシンボル

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

• Ppt2<tm1Hof>

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

• abnormal retinal pigment epithelium morphology
  http://purl.obolibrary.org/obo/MP_0005201

文献

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

• Praveena. Gupta, et.al., Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features., Proceedings of the National Academy of Sciences of the United States of America, 2003, 100
  http://rdf.ncbi.nlm.nih.gov/pubmed/14528005