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| Nomenclature |
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Symbol:
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Spink5tm1Drh
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Name:
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serine peptidase inhibitor, Kazal type 5;
targeted mutation 1, Duncan R Hewett
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MGI ID: |
MGI:3527214 |
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Synonyms: |
Spink5R820X |
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Gene:
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Spink5
Location:
Chr18:43963235-44022501 bp, + strand
Genetic Position: Chr18,
23.74 cM
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Mutation
origin |
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Germline Transmission:
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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:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Spink5 Mutation:
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1 strain or line available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
