Allele/Variant

Smad4m4Mag

Species
Mus musculus
Symbol
Smad4m4Mag
Category
allele
Allele of gene
Smad4
Transgenic Constructs
None
Synonyms
None
Description
A transition mutation (G to A) in the splice donor site of intron 10 resulted in an aberrant transcript lacking exon 10. Furthermore, codons 436 through 455 in the Mad homology 2 domain, were shifted out of frame. Analysis of protein levels showed reductions greater than 50% in heterozygous ES cells as well as in primary embryonic fibroblasts, indicating a dominant negative property. No truncated protein was detected in primary embryonic fibroblasts.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations