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Spink5tm1Hov
Targeted Allele Detail
Summary
Symbol: Spink5tm1Hov
Name: serine peptidase inhibitor, Kazal type 5; targeted mutation 1, Alain Hovnanian
MGI ID: MGI:3573756
Synonyms: Spink5-
Gene: Spink5  Location: Chr18:44096302-44155568 bp, + strand  Genetic Position: Chr18, 23.74 cM
Alliance: Spink5tm1Hov page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:96435
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
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:  58 strains or lines available
References
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
All:  9 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory