Sash3tm1Hlz
Targeted Allele Detail
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| Symbol: |
Sash3tm1Hlz |
| Name: |
SAM and SH3 domain containing 3; targeted mutation 1, Bernhard Holzmann |
| MGI ID: |
MGI:3716944 |
| Synonyms: |
Sly1d |
| Gene: |
Sash3 Location: ChrX:47235313-47250442 bp, + strand Genetic Position: ChrX, 25.54 cM
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| Alliance: |
Sash3tm1Hlz page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:102171
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| Parent Cell Line: |
E14.1 (ES Cell)
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| Strain of Origin: |
129P2/OlaHsd
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| Allele Type: |
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Targeted (Null/knockout) |
| Mutations: |
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Insertion, Intragenic deletion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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| Carrying any Sash3 Mutation: |
7 strains or lines available
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| 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) |
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Analysis Tools
