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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:95549
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  31 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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