Smad4^E6sad
Spontaneous Allele Detail

Summary

• Symbol: Smad4^E6sad
• Name: SMAD family member 4; Exon 6 splice acceptor deletion
• MGI ID: MGI:2449701
• Synonyms: Sad, Smad4^E6sad
• Gene: Smad4 Location: Chr18:73772080-73836851 bp, - strand Genetic Position: Chr18, 49.51 cM
• Alliance: Smad4^E6sad page

Phenotypic analysis of the compound in cis Apc^tm2Rfo/Apc⁺ Smad4^E6sad/Smad4⁺ mouse model

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: 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. (J:81488)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Smad4^E6sad

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 Smad4 Mutation: 48 strains or lines available

References

• Original: J:81488 Hohenstein P, et al., Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene. Genes Chromosomes Cancer. 2003 Mar;36(3):273-82
• All: 4 reference(s)