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| Nomenclature |
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Symbol:
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Sqstm1tm1Jjw
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Name:
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sequestosome 1;
targeted mutation 1, Jolene J Windle
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MGI ID: |
MGI:3817496 |
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Synonyms: |
p62KI, p62P394L, Sqstm1P394L |
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Gene:
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Sqstm1
Location:
Chr11:50199366-50210827 bp, - strand
Genetic Position: Chr11,
30.36 cM, cytoband B1.2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:141179
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Sqstm1 Mutation:
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7 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
