Bettina. Lorenz-Depiereux, et.al., New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice., Mammalian genome : official journal of the International Mammalian Genome Society, 2004, 15

http://rdf.ncbi.nlm.nih.gov/pubmed/15029877

Bettina. Lorenz-Depiereux, et.al., New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice., Mammalian genome : official journal of the International Mammalian Genome Society, 2004, 15

pubmed

allele

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

• Phex<Hyp-Duk>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2388890
• Phex<Hyp-2J>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2181653

class

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

• Phex<Hyp-Duk>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2388890
• Phex<Hyp-2J>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2181653

表現型アノテーション

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

• circling_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0001394IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal scala tympani morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0003167IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal hindlimb morphology_Phex<Hyp-Duk>/Phex<+>
  http://metadb.riken.jp/0000556IBALBcAnBomUrdPhexHypDukPhexPhexHypDukPhex
• abnormal limb bone morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0002115IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• circling_Phex<Hyp-Duk>/Phex<+>
  http://metadb.riken.jp/0001394IBALBcAnBomUrdPhexHypDukPhexPhexHypDukPhex
• abnormal craniofacial bone morphology_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0002116C57BL6JPhexHyp2JYPhexHyp2J
• short tibia_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0002764C57BL6JPhexHyp2JYPhexHyp2J
• abnormal craniofacial bone morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0002116IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal hindlimb morphology_Phex<Hyp>/Phex<+>
  http://metadb.riken.jp/0000556C57BL6JPhexHypPhexPhexHypPhex
• abnormal postnatal growth/weight/body size_Phex<Hyp>/Phex<+>
  http://metadb.riken.jp/0002089C57BL6JPhexHypPhexPhexHypPhex
• cochlear ganglion degeneration_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0002857IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• short tail_Phex<Hyp-Duk>/Phex<+>
  http://metadb.riken.jp/0000592IBALBcAnBomUrdPhexHypDukPhexPhexHypDukPhex
• decreased circulating potassium level_Phex<Hyp>/Y
  http://metadb.riken.jp/0005628C57BL6JPhexHypYPhexHyp
• decreased bone mineral density_Gy/Y
  http://metadb.riken.jp/0000063IC3HSnC57BL6EiGyYGy
• abnormal patella morphology_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0005353C57BL6JPhexHyp2JYPhexHyp2J
• decreased body weight_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0001262C57BL6JPhexHyp2JYPhexHyp2J
• postnatal growth retardation_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0001732IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal temporal bone morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0005272IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• organ of Corti degeneration_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000043IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• increased diameter of long bones_Phex<Hyp>/Y
  http://metadb.riken.jp/0008151C57BL6JPhexHypYPhexHyp
• decreased bone mineral density_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0000063C57BL6JPhexHyp2JYPhexHyp2J
• decreased circulating calcium level_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000195IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• disorganized long bone epiphyseal plate_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0006397IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• disorganized long bone epiphyseal plate_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0006397C57BL6JPhexHyp2JYPhexHyp2J
• short femur_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0003109IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• decreased bone mineral density_Phex<Hyp>/Y
  http://metadb.riken.jp/0000063C57BL6JPhexHypYPhexHyp
• abnormal hindlimb morphology_Gy/Y
  http://metadb.riken.jp/0000556IC3HSnC57BL6EiGyYGy
• abnormal patella morphology_Phex<Hyp>/Y
  http://metadb.riken.jp/0005353C57BL6JPhexHypYPhexHyp
• short tail_Phex<Hyp-2J>/Phex<+>
  http://metadb.riken.jp/0000592C57BL6JPhexHyp2JPhexPhexPhexHyp2J
• short femur_Phex<Hyp>/Y
  http://metadb.riken.jp/0003109C57BL6JPhexHypYPhexHyp
• decreased length of long bones_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0004686C57BL6JPhexHyp2JYPhexHyp2J
• decreased length of long bones_Phex<Hyp>/Y
  http://metadb.riken.jp/0004686C57BL6JPhexHypYPhexHyp
• abnormal hindlimb morphology_Gy/Gy<+>
  http://metadb.riken.jp/0000556IC3HSnC57BL6EiGyGyGyGy
• short tail_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000592IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• decreased circulating calcium level_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0000195C57BL6JPhexHyp2JYPhexHyp2J
• short tail_Gy/Y
  http://metadb.riken.jp/0000592IC3HSnC57BL6EiGyYGy
• abnormal hindlimb morphology_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0000556C57BL6JPhexHyp2JYPhexHyp2J
• abnormal hindlimb morphology_Phex<Hyp-2J>/Phex<+>
  http://metadb.riken.jp/0000556C57BL6JPhexHyp2JPhexPhexPhexHyp2J
• increased diameter of long bones_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0008151C57BL6JPhexHyp2JYPhexHyp2J
• abnormal patella morphology_Gy/Y
  http://metadb.riken.jp/0005353IC3HSnC57BL6EiGyYGy
• small cranium_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0005352IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• decreased body weight_Phex<Hyp>/Y
  http://metadb.riken.jp/0001262C57BL6JPhexHypYPhexHyp
• decreased bone mineral density_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000063IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal hindlimb morphology_Phex<Hyp>/Y
  http://metadb.riken.jp/0000556C57BL6JPhexHypYPhexHyp
• decreased total body fat amount_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0010025IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• disorganized long bone epiphyseal plate_Gy/Y
  http://metadb.riken.jp/0006397IC3HSnC57BL6EiGyYGy
• decreased body weight_Gy/Y
  http://metadb.riken.jp/0001262IC3HSnC57BL6EiGyYGy
• abnormal patella morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0005353IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• postnatal growth retardation_Phex<Hyp-Duk>/Phex<+>
  http://metadb.riken.jp/0001732IBALBcAnBomUrdPhexHypDukPhexPhexHypDukPhex
• short maxilla_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000097IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• short tail_Phex<Hyp>/Phex<+>
  http://metadb.riken.jp/0000592C57BL6JPhexHypPhexPhexHypPhex
• small cranium_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0005352C57BL6JPhexHyp2JYPhexHyp2J
• short fibula_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0002765IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• short fibula_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0002765C57BL6JPhexHyp2JYPhexHyp2J
• short fibula_Phex<Hyp>/Y
  http://metadb.riken.jp/0002765C57BL6JPhexHypYPhexHyp
• short tail_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0000592C57BL6JPhexHyp2JYPhexHyp2J
• abnormal cochlea morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000031IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal inner ear morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000026IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• decreased circulating potassium level_Gy/Y
  http://metadb.riken.jp/0005628IC3HSnC57BL6EiGyYGy
• short tibia_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0002764IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• short tail_Gy/Gy<+>
  http://metadb.riken.jp/0000592IC3HSnC57BL6EiGyGyGyGy
• short femur_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0003109C57BL6JPhexHyp2JYPhexHyp2J
• decreased circulating potassium level_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0005628C57BL6JPhexHyp2JYPhexHyp2J
• decreased total body fat amount_Gy/Y
  http://metadb.riken.jp/0010025IC3HSnC57BL6EiGyYGy
• decreased length of long bones_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0004686IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal hindlimb morphology_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0000556IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• disorganized long bone epiphyseal plate_Phex<Hyp>/Y
  http://metadb.riken.jp/0006397C57BL6JPhexHypYPhexHyp
• increased diameter of long bones_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0008151IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• decreased circulating calcium level_Gy/Y
  http://metadb.riken.jp/0000195IC3HSnC57BL6EiGyYGy
• increased or absent threshold for auditory brainstem response_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0011967IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• increased or absent threshold for auditory brainstem response_Phex<Hyp>/Y
  http://metadb.riken.jp/0011967C57BL6JPhexHypYPhexHyp
• decreased circulating potassium level_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0005628IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal postnatal growth/weight/body size_Phex<Hyp-2J>/Phex<+>
  http://metadb.riken.jp/0002089C57BL6JPhexHyp2JPhexPhexPhexHyp2J
• decreased body weight_Phex<Hyp-Duk>/Y
  http://metadb.riken.jp/0001262IBALBcAnBomUrdPhexHypDukYPhexHypDuk
• abnormal postnatal growth/weight/body size_Gy/Gy<+>
  http://metadb.riken.jp/0002089IC3HSnC57BL6EiGyGyGyGy
• short fibula_Gy/Y
  http://metadb.riken.jp/0002765IC3HSnC57BL6EiGyYGy
• short tibia_Gy/Y
  http://metadb.riken.jp/0002764IC3HSnC57BL6EiGyYGy
• abnormal scala tympani morphology_Phex<Hyp-2J>/Y
  http://metadb.riken.jp/0003167C57BL6JPhexHyp2JYPhexHyp2J
• decreased length of long bones_Gy/Y
  http://metadb.riken.jp/0004686IC3HSnC57BL6EiGyYGy
• short femur_Gy/Y
  http://metadb.riken.jp/0003109IC3HSnC57BL6EiGyYGy
• short tail_Phex<Hyp>/Y
  http://metadb.riken.jp/0000592C57BL6JPhexHypYPhexHyp
• increased diameter of long bones_Gy/Y
  http://metadb.riken.jp/0008151IC3HSnC57BL6EiGyYGy
• increased or absent threshold for auditory brainstem response_Gy/Y
  http://metadb.riken.jp/0011967IC3HSnC57BL6EiGyYGy
• abnormal limb bone morphology_Gy/Y
  http://metadb.riken.jp/0002115IC3HSnC57BL6EiGyYGy
• short tibia_Phex<Hyp>/Y
  http://metadb.riken.jp/0002764C57BL6JPhexHypYPhexHyp
• decreased circulating calcium level_Phex<Hyp>/Y
  http://metadb.riken.jp/0000195C57BL6JPhexHypYPhexHyp