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| Nomenclature |
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Symbol:
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Sqstm1tm1.1Sral
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Name:
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sequestosome 1;
targeted mutation 1.1, Stuart H Ralston
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MGI ID: |
MGI:5056451 |
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Synonyms: |
P394L+ |
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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:173755
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Exon 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)
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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: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
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All: |
1 reference(s)
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Analysis Tools
