Spink5em1Rase
Endonuclease-mediated Allele Detail
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Symbol: |
Spink5em1Rase |
Name: |
serine peptidase inhibitor, Kazal type 5; endonuclease-mediated mutation 1, Radislav Sedlacek |
MGI ID: |
MGI:5824535 |
Synonyms: |
Sp5A135X |
Gene: |
Spink5 Location: Chr18:44096302-44155568 bp, + strand Genetic Position: Chr18, 23.74 cM
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Alliance: |
Spink5em1Rase page
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Allele Type: |
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Endonuclease-mediated (Humanized sequence, Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: 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.
(J:238698)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Spink5 Mutation: |
58 strains or lines available
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Original: |
J:238698 Kasparek P, et al., KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype. PLoS Genet. 2017 Jan;13(1):e1006566 |
All: |
1 reference(s) |
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