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Allele : Sash3<tm1Hlz> SAM and SH3 domain containing 3; targeted mutation 1, Bernhard Holzmann

Primary Identifier  MGI:3716944 Allele Type  Targeted
Attribute String  Null/knockout Gene  Sash3
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Sly1<d>,
  • Sly1<d>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

6 Publication categories