Spink5^tm1Drh
Targeted Allele Detail

Summary

• Symbol: Spink5^tm1Drh
• Name: serine peptidase inhibitor, Kazal type 5; targeted mutation 1, Duncan R Hewett
• MGI ID: MGI:3527214
• Synonyms: Spink5^R820X
• Gene: Spink5 Location: Chr18:44096302-44155568 bp, + strand Genetic Position: Chr18, 23.74 cM
• Alliance: Spink5^tm1Drh page

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 details: The 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 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: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: 2 reference(s)