abnormal loop of Henle ascending limb thick segment morphology_Umod<Urehd1>/Umod<+>

http://metadb.riken.jp/0011344IC3HeBFeJUmodUrehd1UmodUmodUrehd1Umod

abnormal loop of Henle ascending limb thick segment morphology_Umod<Urehd1>/Umod<+>

表現型アノテーション

MGI marker

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

• uromodulin
  http://metadb.riken.jp/db/mgi_rdf/MGI:102674

遺伝子型

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

• Umod<Urehd1>/Umod<+>

アレルシンボル

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

• Umod<Urehd1>|Umod<+>

遺伝的背景

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

• involves: C3HeB/FeJ

MP annotation

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

• abnormal loop of Henle ascending limb thick segment morphology
  http://purl.obolibrary.org/obo/MP_0011344

文献

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

• Elisabeth. Kemter, et.al., Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23748428