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Allele : Phex<Mhdabap012> phosphate regulating endopeptidase homolog, X-linked; Martin Hrabe de Angelis bone alkaline phospatase mutant 012

Primary Identifier  MGI:5424918 Allele Type  Chemically induced (ENU)
Gene  Phex Strain of Origin  C3HeB/FeJ
Is Recombinase  false Is Wild Type  false
molecularNote  This ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. This mutation is a nonsense mutation in exon 2 of the gene; an A-to-T point mutation at position 148 of the cDNA is predicted to alter codon 50 in the encoded protein from a lysine to a stop codon.
  • mutations:
  • Single point mutation
  • synonyms:
  • bone alkaline phospatase mutant 012,
  • Phex<BAP012>,
  • Phex<BAP012>,
  • bone alkaline phospatase mutant 012
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

3 Publication categories