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Targeted Allele Detail
Symbol: Sqstm1tm1Jjw
Name: sequestosome 1; targeted mutation 1, Jolene J Windle
MGI ID: MGI:3817496
Synonyms: p62KI, p62P394L, Sqstm1P394L
Gene: Sqstm1  Location: Chr11:50199366-50210827 bp, - strand  Genetic Position: Chr11, 30.36 cM, cytoband B1.2
Germline Transmission:  Earliest citation of germline transmission: J:141179
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
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)
View phenotypes for all genotypes (concatenated display).
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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:  10 strains or lines available
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:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
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