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Allele : Smad4<m4Mag> SMAD family member 4; mutation 4, Terry Magnuson

Primary Identifier  MGI:2447208 Allele Type  Chemically induced (ENU)
Attribute String  Dominant negative Gene  Smad4
Transmission  Germline Strain of Origin  129S/Sv
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele