Jaume. Amengual, et.al., STRA6 is critical for cellular vitamin A uptake and homeostasis., Human molecular genetics, 2014, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/24852372

Jaume. Amengual, et.al., STRA6 is critical for cellular vitamin A uptake and homeostasis., Human molecular genetics, 2014, 23

pubmed

allele

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

• Stra6<tm1Jvli>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5648726
• Stra6<tm1.1Jvli>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5648728

class

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

• Stra6<tm1Jvli>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5648726
• Stra6<tm1.1Jvli>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5648728

表現型アノテーション

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

• abnormal optic choroid morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0005098IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal retina morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0001325IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• decreased body size_Stra6<tm1Jvli>/Stra6<tm1Jvli>
  http://metadb.riken.jp/0001265IC57BL6Stra6tm1JvliStra6tm1JvliStra6tm1Jvli
• abnormal choroid vasculature morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0006237IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• decreased retinal cone cell number_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0008446IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal sclera morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0002698IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• decreased body weight_Stra6<tm1Jvli>/Stra6<tm1Jvli>
  http://metadb.riken.jp/0001262IC57BL6Stra6tm1JvliStra6tm1JvliStra6tm1Jvli
• enlarged cranium_Stra6<tm1Jvli>/Stra6<tm1Jvli>
  http://metadb.riken.jp/0000439IC57BL6Stra6tm1JvliStra6tm1JvliStra6tm1Jvli
• abnormal retinal photoreceptor morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0001004IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal retinal pigment epithelium morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0005201IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal retinal outer nuclear layer morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0003731IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal retinal inner nuclear layer thickness_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0011996IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• dilated brain ventricles_Stra6<tm1Jvli>/Stra6<tm1Jvli>
  http://metadb.riken.jp/0012676IC57BL6Stra6tm1JvliStra6tm1JvliStra6tm1Jvli
• postnatal lethality, complete penetrance_Stra6<tm1Jvli>/Stra6<tm1Jvli>
  http://metadb.riken.jp/0011085IC57BL6Stra6tm1JvliStra6tm1JvliStra6tm1Jvli
• blindness_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0002001IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal vitamin A level_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0011232IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal cranium morphology_Stra6<tm1Jvli>/Stra6<tm1Jvli>
  http://metadb.riken.jp/0000438IC57BL6Stra6tm1JvliStra6tm1JvliStra6tm1Jvli
• hydroencephaly_Stra6<tm1Jvli>/Stra6<tm1Jvli>
  http://metadb.riken.jp/0001891IC57BL6Stra6tm1JvliStra6tm1JvliStra6tm1Jvli
• abnormal retinal rod cell outer segment morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0008456IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• short photoreceptor outer segment_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0008587IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal retinal melanin granule morphology_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0010192IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• retinal cone cell degeneration_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0008444IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal vitamin A metabolism_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0011233IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal electroretinogram waveform feature_Stra6<tm1.1Jvli>/Stra6<tm1.1Jvli>
  http://metadb.riken.jp/0012029IC57BL6FVBNStra6tm11JvliStra6tm11JvliStra6tm11Jvli
• abnormal retina morphology_Rbp4<tm1Gott>/Rbp4<tm1Gott>
  http://metadb.riken.jp/0001325I129C57BL6JRbp4tm1GottRbp4tm1GottRbp4tm1Gott