exencephaly_Ift140<cauli>/Ift140<cauli>

http://metadb.riken.jp/0000914IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli

exencephaly_Ift140<cauli>/Ift140<cauli>

表現型アノテーション

MGI marker

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

• intraflagellar transport 140
  http://metadb.riken.jp/db/mgi_rdf/MGI:2146906

遺伝子型

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

• Ift140<cauli>/Ift140<cauli>

アレルシンボル

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

• Ift140<cauli>

遺伝的背景

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

• involves: C3H/HeH * C57BL/6JAnu

MP annotation

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

• exencephaly
  http://purl.obolibrary.org/obo/MP_0000914

文献

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

• Georgina. Caruana, et.al., Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease., PloS one, 2013, 8
  http://rdf.ncbi.nlm.nih.gov/pubmed/23469164
• Kerry A. Miller, et.al., Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome., PLoS genetics, 2013, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/24009529