hyperkeratosis_Nsdhl<tm1.1Hrm>/Nsdhl<+>,Tg(Sox2-cre)1Amc/0

http://metadb.riken.jp/0001242I129S6SvEvTacC57BL6C57BL6NCBANsdhltm11HrmNsdhlTgSox2cre1Amc0TgSox2cre1AmcNsdhlNsdhltm11Hrm

hyperkeratosis_Nsdhl<tm1.1Hrm>/Nsdhl<+>,Tg(Sox2-cre)1Amc/0

表現型アノテーション

MGI marker

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

• transgene insertion 1, Andrew P McMahon
  http://metadb.riken.jp/db/mgi_rdf/MGI:2656537
• NAD(P) dependent steroid dehydrogenase-like
  http://metadb.riken.jp/db/mgi_rdf/MGI:1099438

遺伝子型

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

• Nsdhl<tm1.1Hrm>/Nsdhl<+>,Tg(Sox2-cre)1Amc/0

アレルシンボル

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

• Tg(Sox2-cre)1Amc|Nsdhl<+>|Nsdhl<tm1.1Hrm>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

MP annotation

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

• hyperkeratosis
  http://purl.obolibrary.org/obo/MP_0001242

文献

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

• David. Cunningham, et.al., Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/25652406