Spink5^tm1Hov
Targeted Allele Detail

Summary

• Symbol: Spink5^tm1Hov
• 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: Spink5^tm1Hov 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)

Disease models

Expression

In Mice Carrying this Mutation:	30 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

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: 8 reference(s)