Sqstm1^tm1.1Sral
Targeted Allele Detail

Summary

• Symbol: Sqstm1^tm1.1Sral
• Name: sequestosome 1; targeted mutation 1.1, Stuart H Ralston
• MGI ID: MGI:5056451
• Synonyms: P394L⁺
• Gene: Sqstm1 Location: Chr11:50090193-50101654 bp, - strand Genetic Position: Chr11, 30.36 cM, cytoband B1.2
• Alliance: Sqstm1^tm1.1Sral page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:173755
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 8 was replaced with a modified exon with a C to T transition that results in the amino acid substitution of leucine for proline at position 394 (P394L), mimicking a mutation found in some Paget's disease of bone (PDB) patients. Cre-mediated recombination removed the neo cassette inserted upstream of the modified exon 8. (J:173755)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: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: 2 reference(s)