Erika A. Bosman, et.al., Multiple mutations in mouse Chd7 provide models for CHARGE syndrome., Human molecular genetics, 2005, 14

http://rdf.ncbi.nlm.nih.gov/pubmed/16207732

Erika A. Bosman, et.al., Multiple mutations in mouse Chd7 provide models for CHARGE syndrome., Human molecular genetics, 2005, 14

pubmed

表現型アノテーション

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

• decreased total body fat amount_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0010025IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• decreased palatal rugae number_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0013767IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• head shaking_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0002730IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• clitoris hypoplasia_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0009101IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• keratoconjunctivitis sicca_Crsl/Crsl<+>
  http://metadb.riken.jp/0013466IC3HeBFeJCrslCrslCrslCrsl
• postnatal lethality_Crsl/Crsl<+>
  http://metadb.riken.jp/0002082IC3HeBFeJCrslCrslCrslCrsl
• decreased body weight_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0001262IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• abnormal outer ear morphology_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0002177IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• dry eyes_Crsl/Crsl<+>
  http://metadb.riken.jp/0001337IC3HeBFeJCrslCrslCrslCrsl
• edema_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0001785IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• postnatal lethality_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0002082IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• abnormal external female genitalia morphology_Crsl/Crsl<+>
  http://metadb.riken.jp/0003126IC3HeBFeJCrslCrslCrslCrsl
• clitoris hypoplasia_Chd7<Flo>/Chd7<+>
  http://metadb.riken.jp/0009101IC3HeBFeJChd7FloChd7Chd7FloChd7
• keratoconjunctivitis sicca_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0013466IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• cleft secondary palate_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0009890IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• abnormal external female genitalia morphology_Chd7<Flo>/Chd7<+>
  http://metadb.riken.jp/0003126IC3HeBFeJChd7FloChd7Chd7FloChd7
• circling_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0001394IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• keratoconjunctivitis sicca_Chd7<Flo>/Chd7<+>
  http://metadb.riken.jp/0013466IC3HeBFeJChd7FloChd7Chd7FloChd7
• dry eyes_Chd7<Flo>/Chd7<+>
  http://metadb.riken.jp/0001337IC3HeBFeJChd7FloChd7Chd7FloChd7
• clitoris hypoplasia_Crsl/Crsl<+>
  http://metadb.riken.jp/0009101IC3HeBFeJCrslCrslCrslCrsl
• abnormal secondary palate development_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0009655IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• abnormal external female genitalia morphology_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0003126IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• abnormal internal nares morphology_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0002236IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• hemorrhage_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0001914IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• ventricular septal defect_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0010402IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• dry eyes_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0001337IC3HeBFeJChd7WhiChd7Chd7WhiChd7
• postnatal lethality_Chd7<Flo>/Chd7<+>
  http://metadb.riken.jp/0002082IC3HeBFeJChd7FloChd7Chd7FloChd7
• abnormal digit development_Chd7<Whi>/Chd7<+>
  http://metadb.riken.jp/0006280IC3HeBFeJChd7WhiChd7Chd7WhiChd7