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Targeted Allele Detail
Symbol: Sqstm1tm1.1Sral
Name: sequestosome 1; targeted mutation 1.1, Stuart H Ralston
MGI ID: MGI:5056451
Synonyms: P394L+
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:173755
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsExon 8 was replaced with a modified exon with a T to C transition that results in the amino acid substitution of lysine for proline at position 394 (P394L). Cre-mediated recombination removed the neo cassette inserted upstream of the modified exon 8. (J:173755)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  8 strains or lines available
Original:  J:173755 Daroszewska A, et al., A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. Hum Mol Genet. 2011 Jul 15;20(14):2734-44
All:  1 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 6.0
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