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Smad4E6sad
Spontaneous Allele Detail
Nomenclature
Symbol: Smad4E6sad
Name: SMAD family member 4; Exon 6 splice acceptor deletion
MGI ID: MGI:2449701
Synonyms: Sad, Smad4E6sad
Gene: Smad4  Location: Chr18:73639009-73703780 bp, - strand  Genetic Position: Chr18, 49.51 cM
Phenotypic analysis of the compound in cis Apctm2Rfo/Apc+ Smad4E6sad/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 detailsSequence 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  13 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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory