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Allele : Phex<m1Jrt> phosphate regulating endopeptidase homolog, X-linked; mutation 1, Janet Rossant

Primary Identifier  MGI:5489940 Allele Type  Chemically induced (ENU)
Gene  Phex Strain of Origin  129S1/SvImJ
Is Recombinase  false Is Wild Type  false
molecularNote  Sequencing identified a A-to-T replacement in the fourth base pair of exon 14. This results in a lysine to stop codon change at position 496 of the encoded protein. Phex mRNA is expressed at reduced levels in mineralized stromal cells from mutant male hemizygous mice but the encoded protein is undetectable by immunoblot analysis on protein from femurs of mutant male hemizygous mice.
  • mutations:
  • Single point mutation
  • synonyms:
  • Phex<K496X>,
  • Phex<Jrt>,
  • Phex<K496X>,
  • Phex<Jrt>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele