Smad4^m4Mag
Chemically induced Allele Detail

Summary

• Symbol: Smad4^m4Mag
• Name: SMAD family member 4; mutation 4, Terry Magnuson
• MGI ID: MGI:2447208
• Gene: Smad4 Location: Chr18:73772080-73836851 bp, - strand Genetic Position: Chr18, 49.51 cM
• Alliance: Smad4^m4Mag page

Stomach and stomach sections of 11 month old wild type and Smad4^m4Mag/+ mice.

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:80520
• Parent Cell Line: CT129 (ES Cell)
• Strain of Origin: 129S/Sv

Mutation description

• Allele Type: Chemically induced (ENU) (Dominant negative)
• Mutation: Single point mutation
• Mutation details: 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. (J:80520)

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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: 47 strains or lines available

References

• Original: J:80520 Vivian JL, et al., An allelic series of mutations in Smad2 and Smad4 identified in a genotype-based screen of N-ethyl-N- nitrosourea-mutagenized mouse embryonic stem cells. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15542-7
• All: 2 reference(s)