Spink5tm1Drh
Targeted Allele Detail
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Symbol: |
Spink5tm1Drh |
Name: |
serine peptidase inhibitor, Kazal type 5; targeted mutation 1, Duncan R Hewett |
MGI ID: |
MGI:3527214 |
Synonyms: |
Spink5R820X |
Gene: |
Spink5 Location: Chr18:44096302-44155568 bp, + strand Genetic Position: Chr18, 23.74 cM
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Alliance: |
Spink5tm1Drh page
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Germline Transmission: |
Earliest citation of germline transmission:
J:95549
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Parent Cell Line: |
E14.1 (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Null/knockout) |
Mutation: |
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Insertion
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Mutation details: The introduction of a premature stop codon (R820X) into the sequence encoding the linker region separating the 12th inhibitory domain from the truncated 13th inhibitory domain disrupted exon 26. A loxP flanked neo was inserted immediately downstream of the mutation, within exon 26. Transcript levels in mutant mice were decreased as compared to wild-type levels as shown by real time PCR.
(J:95549)
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View phenotypes and curated references for all genotypes (concatenated display).
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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:95549 Hewett DR, et al., Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome. Hum Mol Genet. 2005 Jan 15;14(2):335-46 |
All: |
2 reference(s) |
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