Sqstm1^tm1Jjw
Targeted Allele Detail

Summary

• Symbol: Sqstm1^tm1Jjw
• Name: sequestosome 1; targeted mutation 1, Jolene J Windle
• MGI ID: MGI:3817496
• Synonyms: p62KI, p62^P394L, Sqstm1^P394L
• Gene: Sqstm1 Location: Chr11:50090193-50101654 bp, - strand Genetic Position: Chr11, 30.36 cM, cytoband B1.2
• Alliance: Sqstm1^tm1Jjw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:141179
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting vector was constructed to engineer a point mutation into the gene locus. A P394L mutation (a C-to-T transition) was introduced into exon 8 by PCR-based site-directed mutagenesis. This mutation is equivalent to the P392L substitution in the human gene. A loxP-flanked neo cassette was also introduced immediately downstream of exon 7. After targeting, transient cre-recombinase expression removed the neo cassette leaving a single loxP site behind. Southern blot and genomic PCR analysis confirmed correct targeting of the construct. (J:141179)

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 Sqstm1 Mutation: 34 strains or lines available

References

• Original: J:141179 Hiruma Y, et al., A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. Hum Mol Genet. 2008 Dec 1;17(23):3708-19
• All: 4 reference(s)