decreased circulating thyroid-stimulating hormone level_Igsf1<tm1Zuk>/Y

http://metadb.riken.jp/0005119EI129S6SvEv129S7SvEvBrdorI129S7SvEvBrdC57BL6JIgsf1tm1ZukYIgsf1tm1Zuk

decreased circulating thyroid-stimulating hormone level_Igsf1<tm1Zuk>/Y

表現型アノテーション

MGI marker

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

• immunoglobulin superfamily, member 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2147913

遺伝子型

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

• Igsf1<tm1Zuk>/Y

アレルシンボル

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

• Igsf1<tm1Zuk>

遺伝的背景

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

• either: (involves: 129S6/SvEv * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

MP annotation

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

• decreased circulating thyroid-stimulating hormone level
  http://purl.obolibrary.org/obo/MP_0005119

文献

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

• Yu. Sun, et.al., Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement., Nature genetics, 2012, 44
  http://rdf.ncbi.nlm.nih.gov/pubmed/23143598