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Allele : Sppl2a<m1Anu> signal peptide peptidase like 2A; mutation 1, Australian National University

Primary Identifier  MGI:5432126 Allele Type  Chemically induced (ENU)
Gene  Sppl2a Inheritance Mode  Recessive
Strain of Origin  C57BL/6JAnu Is Recombinase  false
Is Wild Type  false Project Collection  APF ENU Mutagenesis
molecularNote  An ENU induced mutation at position 2 of intron 7 (c.842+2T>A GRCm39:chr2:126762236A>T) changes exon/intron 7 splice donor site C-GT to C-GA, leading to skipping of exon 7. Splicing of exon 8 to exon 6 results in a frame shift and premature stop codon that deleted most of the normal protein including 7 of the 9 transmembrane domains as well as the protease active site.
  • mutations:
  • Single point mutation
  • synonyms:
  • Enid,
  • Sppl2a<m1Ccg>,
  • Sppl2a<Enid>,
  • Sppl2a<m1Ccg>,
  • Enid,
  • ENU15NIH85a,
  • Sppl2a<Enid>,
  • ENU15NIH85a
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories