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Allele : Phex<Ska1> phosphate regulating endopeptidase homolog, X-linked; skeletal abnormality 1

Primary Identifier  MGI:2429767 Allele Type  Chemically induced (ENU)
Gene  Phex Inheritance Mode  Dominant
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  RT-PCR identified a transcript lacking 84 nucleotides corresponding to exon 8. Sequencing of genomic DNA revealed point mutations of the first nucleotide pair in intron 8 (CG to TA), which resulted in the disruption of the splice donor site and consequent skipping of exon 8.
  • mutations:
  • Single point mutation
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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

3 Publication categories

Trail: Allele