Smad4E6sad
Spontaneous Allele Detail
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Symbol: |
Smad4E6sad |
Name: |
SMAD family member 4; Exon 6 splice acceptor deletion |
MGI ID: |
MGI:2449701 |
Synonyms: |
Sad, Smad4E6sad |
Gene: |
Smad4 Location: Chr18:73772080-73836851 bp, - strand Genetic Position: Chr18, 49.51 cM
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Alliance: |
Smad4E6sad page
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Phenotypic analysis of the compound in cis Apctm2Rfo/Apc+ Smad4E6sad/Smad4+ mouse model
Show the 1 phenotype image(s) involving this allele.
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Allele Type: |
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Spontaneous |
Mutation: |
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Intragenic deletion
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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)
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Inheritance: |
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Dominant |
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View phenotypes and curated references for all genotypes (concatenated display).
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List all tumor models in MMHCdb carrying
Smad4E6sad
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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 Smad4 Mutation: |
43 strains or lines available
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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) |
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