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Allele : Psap<tm2.1Juma> prosaposin; targeted mutation 2.1, Junko Matsuda

Primary Identifier  MGI:6444205 Allele Type  Targeted
Attribute String  Not Specified Gene  Psap
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  A T to A nucleotide substitution resulting in an amino acid substitution of the fifth cysteine to serine at position 384 (p.C384S) in exon 11 was knocked into the open reading frame along with a floxed neo cassette that was then removed by cre-mediated recombination. This mutation eliminates one of this protein's three disulfide bridges and results in a selective deficiency in Saposin C.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Psap<C384S>,
  • Psap<C384S>,
  • Sap-C<->,
  • Sap-C<->
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele