Spink5^em1Rase
Endonuclease-mediated Allele Detail

Summary

• Symbol: Spink5^em1Rase
• Name: serine peptidase inhibitor, Kazal type 5; endonuclease-mediated mutation 1, Radislav Sedlacek
• MGI ID: MGI:5824535
• Synonyms: Sp5^A135X
• Gene: Spink5 Location: Chr18:44096302-44155568 bp, + strand Genetic Position: Chr18, 23.74 cM
• Alliance: Spink5^em1Rase page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Expression

In Mice Carrying this Mutation:

70 assay results

Find Mice (IMSR)

• 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
• Carrying any Spink5 Mutation: 59 strains or lines available

References

• 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)