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Sqstm1tm1Jjw
Targeted Allele Detail
Summary
Symbol: Sqstm1tm1Jjw
Name: sequestosome 1; targeted mutation 1, Jolene J Windle
MGI ID: MGI:3817496
Synonyms: p62KI, p62P394L, Sqstm1P394L
Gene: Sqstm1  Location: Chr11:50090193-50101654 bp, - strand  Genetic Position: Chr11, 30.36 cM, cytoband B1.2
Alliance: Sqstm1tm1Jjw 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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  32 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)

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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory