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Allele : Spink5<em1Rase> serine peptidase inhibitor, Kazal type 5; endonuclease-mediated mutation 1, Radislav Sedlacek

Primary Identifier  MGI:5824535 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Null/knockout Gene  Spink5
Strain of Origin  C57BL/6N Is Recombinase  false
Is Wild Type  false
molecularNote  Exon 5 was targeted with TALENs. The DNA binding domain of the 5' TALEN targeted ACCGCAGTAGATGTGAACT, the 3' TALEN targeted GTGAGTACCCTATAAAGCAG. Sequencing of the transcripts from this allele confirmed the deletion of 2 nucleotides in exon 5. The deletion causes a frame-shift and premature stop codon mimicking a mutation found in human Netherton syndrome patients. The engineered mutation in this allele also involved the insertion of 4 nucleotides at the same site to create a diagnostic restriction enzyme site. In mice homozygous for this allele, the transcription level of the gene is greatly reduced.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Sp5<A135X>,
  • Sp5<A135X>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

2 Publication categories