abnormal cornea morphology_Krt12<tm1.1(KRT12*L132P)Arte>/Krt12<tm1.1(KRT12*L132P)Arte>

http://metadb.riken.jp/0001312IC57BL6Krt12tm11KRT12L132PArteKrt12tm11KRT12L132PArteKrt12tm11KRT12L132PArte

abnormal cornea morphology_Krt12<tm1.1(KRT12*L132P)Arte>/Krt12<tm1.1(KRT12*L132P)Arte>

表現型アノテーション

MGI marker

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

• keratin 12
  http://metadb.riken.jp/db/mgi_rdf/MGI:96687

遺伝子型

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

• Krt12<tm1.1(KRT12*L132P)Arte>/Krt12<tm1.1(KRT12*L132P)Arte>

アレルシンボル

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

• Krt12<tm1.1(KRT12*L132P)Arte>

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

• abnormal cornea morphology
  http://purl.obolibrary.org/obo/MP_0001312

文献

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

• Edwin H A. Allen, et.al., Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy., Human molecular genetics, 2016, 25
  http://rdf.ncbi.nlm.nih.gov/pubmed/26758872