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Spink5tm1Drh
Targeted Allele Detail
Nomenclature
Symbol: Spink5tm1Drh
Name: serine peptidase inhibitor, Kazal type 5; targeted mutation 1, Duncan R Hewett
MGI ID: MGI:3527214
Synonyms: Spink5R820X
Gene: Spink5  Location: Chr18:43963235-44022501 bp, + strand  Genetic Position: Chr18, 23.74 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:95549
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  0 strains or lines available
References
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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory