Susanne. Diener, et.al., Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia., Mammalian genome : official journal of the International Mammalian Genome Society, 2016, 27

http://rdf.ncbi.nlm.nih.gov/pubmed/26803617

Susanne. Diener, et.al., Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia., Mammalian genome : official journal of the International Mammalian Genome Society, 2016, 27

pubmed

表現型アノテーション

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

• short ribs_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004672C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal calcaneum morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0009728C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal neurocranium morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0000074C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• short femur_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0003109C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal intramembranous bone ossification_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0008273C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• increased long bone epiphyseal plate size_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0006398C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• decreased body size_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0001265C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal scapula morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0000149C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• short humerus_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004351C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal joint morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0002932C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• increased alkaline phosphatase activity_Fam46a<m1Mhda>/Fam46a<+>
  http://metadb.riken.jp/0011584C3HeBFeJFam46am1MhdaFam46am1MhdaFam46aFam46am1MhdaFam46a
• abnormal gait_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0001406C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• lethality, incomplete penetrance_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0010831C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal rib morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0000150C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• decreased body height_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0001255C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal femur morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0000559C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• absent bone trabeculae_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0010870C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• increased diameter of femur_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0008158C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• small scapula_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004343C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• small cranium_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0005352C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• fragile skeleton_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0000061C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• increased diameter of humerus_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0008160C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal thoracic cage morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004624C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal limb morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0002109C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• decreased femur compact bone thickness_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0013624C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal skeleton morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0005508C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal humerus morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0005296C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal vertebral column morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004703C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal deltoid tuberosity morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004353C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• increased alkaline phosphatase activity_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0011584C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• small ischium_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004689C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• delayed bone ossification_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0000060C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal tibia morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0000558C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda
• abnormal ischium morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>
  http://metadb.riken.jp/0004507C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda