Marina R. Carpinelli, et.al., An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets., The American journal of pathology, 2002, 161

http://rdf.ncbi.nlm.nih.gov/pubmed/12414538

Marina R. Carpinelli, et.al., An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets., The American journal of pathology, 2002, 161

pubmed

allele

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

• Phex<Ska1>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2429767

class

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

• Phex<Ska1>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2429767

表現型アノテーション

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

• decreased bone resorption_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0004993C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal pelvic girdle bone morphology_Phex<Ska1>/Y
  http://metadb.riken.jp/0004509C57BL6PhexSka1PhexSka1YPhexSka1
• short femur_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0003109C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• decreased compact bone thickness_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0000135C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal caudal vertebrae morphology_Phex<Ska1>/Y
  http://metadb.riken.jp/0002759C57BL6PhexSka1PhexSka1YPhexSka1
• small clavicle_Phex<Ska1>/Y
  http://metadb.riken.jp/0004338C57BL6PhexSka1PhexSka1YPhexSka1
• short ulna_Phex<Ska1>/Y
  http://metadb.riken.jp/0004359C57BL6PhexSka1PhexSka1YPhexSka1
• exostosis_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0009877C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal caudal vertebrae morphology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0002759C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• small clavicle_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0004338C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• decreased circulating phosphate level_Phex<Ska1>/Y
  http://metadb.riken.jp/0000198C57BL6PhexSka1PhexSka1YPhexSka1
• abnormal rib morphology_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0000150C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal hindlimb morphology_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0000556C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal limb long bone morphology_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0011504C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal skeleton morphology_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0005508C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal pelvic girdle bone morphology_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0004509C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• increased circulating alkaline phosphatase level_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0002968C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal long bone metaphysis morphology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0000133C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• short ulna_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0004359C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• increased circulating alkaline phosphatase level_Phex<Ska1>/Y
  http://metadb.riken.jp/0002968C57BL6PhexSka1PhexSka1YPhexSka1
• abnormal gait_Phex<Ska1>/Y
  http://metadb.riken.jp/0001406C57BL6PhexSka1PhexSka1YPhexSka1
• short femur_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0003109C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal hindlimb morphology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0000556C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• short tibia_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0002764C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal rib morphology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0000150C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal limb long bone morphology_Phex<Ska1>/Y
  http://metadb.riken.jp/0011504C57BL6PhexSka1PhexSka1YPhexSka1
• abnormal gait_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0001406C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• decreased compact bone thickness_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0000135C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal bone mineralization_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0002896C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• increased circulating alkaline phosphatase level_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0002968C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• decreased circulating calcium level_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0000195C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• decreased circulating phosphate level_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0000198C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal caudal vertebrae morphology_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0002759C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• abnormal hindlimb morphology_Phex<Ska1>/Y
  http://metadb.riken.jp/0000556C57BL6PhexSka1PhexSka1YPhexSka1
• abnormal long bone epiphyseal plate morphology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0003055C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• exostosis_Phex<Ska1>/Y
  http://metadb.riken.jp/0009877C57BL6PhexSka1PhexSka1YPhexSka1
• short fibula_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0002765C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• short radius_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0004355C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• increased width of hypertrophic chondrocyte zone_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0003408C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• osteomalacia_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0009445C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• short humerus_Phex<Ska1>/Y
  http://metadb.riken.jp/0004351C57BL6PhexSka1PhexSka1YPhexSka1
• abnormal rib morphology_Phex<Ska1>/Y
  http://metadb.riken.jp/0000150C57BL6PhexSka1PhexSka1YPhexSka1
• short humerus_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0004351C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• short radius_Phex<Ska1>/Y
  http://metadb.riken.jp/0004355C57BL6PhexSka1PhexSka1YPhexSka1
• exostosis_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0009877C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• rickets_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0003116C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal skeleton morphology_Phex<Ska1>/Y
  http://metadb.riken.jp/0005508C57BL6PhexSka1PhexSka1YPhexSka1
• decreased circulating phosphate level_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0000198C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• decreased bone mineral density_Phex<Ska1>/Phex<+>
  http://metadb.riken.jp/0000063C57BL6PhexSka1PhexSka1PhexPhexPhexSka1
• short femur_Phex<Ska1>/Y
  http://metadb.riken.jp/0003109C57BL6PhexSka1PhexSka1YPhexSka1
• abnormal pelvic girdle bone morphology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0004509C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• short tibia_Phex<Ska1>/Y
  http://metadb.riken.jp/0002764C57BL6PhexSka1PhexSka1YPhexSka1
• short fibula_Phex<Ska1>/Y
  http://metadb.riken.jp/0002765C57BL6PhexSka1PhexSka1YPhexSka1
• abnormal osteoclast physiology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0001541C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal limb long bone morphology_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0011504C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• decreased bone mineral density_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0000063C57BL6PhexSka1PhexSka1PhexSka1PhexSka1
• abnormal gait_Phex<Ska1>/Phex<Ska1>
  http://metadb.riken.jp/0001406C57BL6PhexSka1PhexSka1PhexSka1PhexSka1