Sash3^tm1Hlz
Targeted Allele Detail

Summary

• Symbol: Sash3^tm1Hlz
• Name: SAM and SH3 domain containing 3; targeted mutation 1, Bernhard Holzmann
• MGI ID: MGI:3716944
• Synonyms: Sly1^d
• Gene: Sash3 Location: ChrX:47235313-47250442 bp, + strand Genetic Position: ChrX, 25.54 cM
• Alliance: Sash3^tm1Hlz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:102171
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A cassette containing beta-gal and neo was inserted to replace the majority of exons 2 and 3. Western blot detected a truncated protein of 45 kDa as opposed to the 55 kDa wild-type protein. The residual protein was generated by a splicing event that involved skipping the beta-gal and neo cassette. Exon 1 was spliced to exon 4 in frame in this mutant allele. Amino acids Leu20 to Met100 were deleted, including crucial structural elements of the protein and the C-terminal half of the putative bipartite nuclear localization sequence, rendering it functionally inactive. (J:102171)

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 Sash3 Mutation: 7 strains or lines available

References

• Original: J:102171 Beer S, et al., Impaired immune responses and prolonged allograft survival in Sly1 mutant mice. Mol Cell Biol. 2005 Nov;25(21):9646-60
• All: 3 reference(s)