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| Nomenclature |
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Symbol:
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Spink5tm1Hov
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Name:
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serine peptidase inhibitor, Kazal type 5;
targeted mutation 1, Alain Hovnanian
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MGI ID: |
MGI:3573756 |
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Synonyms: |
Spink5- |
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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:96435
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Parent Cell Line:
| E14 (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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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The first four coding exons, including the ATG, were replaced with a neomycin resistance gene. RT-PCR of skin from mutants demonstrated successful ablation of the gene. (J:96435)
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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:96435
Descargues P et al.,
"Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity."
Nat Genet 2005 Jan;37(1):56-65
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All: |
5 reference(s)
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Analysis Tools
