Smad4^E6sad

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Species

Mus musculus

Symbol

Smad4^E6sad

Category

allele

Allele of gene

Smad4

Transgenic Constructs

None

Synonyms

• Sad
• Smad4^E6sad

Description

Sequence analysis identified a deletion of a single A in the exon 6 splice acceptor site. The resultant activation of a cryptic splice site 4 nt downstream of exon 6 lead to a frameshift mutation at amino acid 261 which in turn created a nonsense mutation 71 codons downstream. RT-PCR analysis indicated decreased transcript stability, putatively due to nonsense mediated decay. Protein was undetected by Western blot analysis of homozygous mutant ES cells.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations