retinal cone cell degeneration_Cacna1f<tm1.1Sdie>/Cacna1f<+>

http://metadb.riken.jp/0008444IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie

retinal cone cell degeneration_Cacna1f<tm1.1Sdie>/Cacna1f<+>

表現型アノテーション

MGI marker

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

• calcium channel, voltage-dependent, alpha 1F subunit
  http://metadb.riken.jp/db/mgi_rdf/MGI:1859639

遺伝子型

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

• Cacna1f<tm1.1Sdie>/Cacna1f<+>

アレルシンボル

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

• Cacna1f<+>|Cacna1f<tm1.1Sdie>

遺伝的背景

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

• involves: C57BL/6

MP annotation

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

• retinal cone cell degeneration
  http://purl.obolibrary.org/obo/MP_0008444

文献

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

• Stylianos. Michalakis, et.al., Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2., Human molecular genetics, 2014, 23
  http://rdf.ncbi.nlm.nih.gov/pubmed/24163243