Sash3^tm1Hlz

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Species

Mus musculus

Symbol

Sash3^tm1Hlz

Category

allele

Allele of gene

Sash3

Transgenic Constructs

None

Synonyms

• Sly1^d

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations