impaired pupillary reflex_Phox2b<tm1Jbr>/Phox2b<+>

http://metadb.riken.jp/0006243NSPhox2btm1JbrPhox2bPhox2btm1JbrPhox2b

impaired pupillary reflex_Phox2b<tm1Jbr>/Phox2b<+>

表現型アノテーション

MGI marker

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

• paired-like homeobox 2b
  http://metadb.riken.jp/db/mgi_rdf/MGI:1100882

遺伝子型

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

• Phox2b<tm1Jbr>/Phox2b<+>

アレルシンボル

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

• Phox2b<tm1Jbr>|Phox2b<+>

遺伝的背景

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

• Not Specified

MP annotation

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

• impaired pupillary reflex
  http://purl.obolibrary.org/obo/MP_0006243

文献

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

• Sally H. Cross, et.al., Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome., Human molecular genetics, 2004, 13
  http://rdf.ncbi.nlm.nih.gov/pubmed/15150159