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Allele : Smad9<tm1Mwst> SMAD family member 9; targeted mutation 1, Michael Weinstein

Primary Identifier  MGI:3581766 Allele Type  Targeted
Attribute String  Conditional ready, Hypomorph Gene  Smad9
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting construct was designed to flank exon 3 with loxP sites and insert a PGK-neo into intron 3 with a 3' loxP site. RT-PCR demonstrated a hybrid transcript in mutant mice, utilizing a splice site 5 bp upstream of the initiationg ATG. This aberrant splicing caused neo to be out of frame with the endogenous transcript, resulting in a premature stop codon, and thereby allowing synthesis of a truncated Smad9 protein lacking about three-fourths of the MH2 domain. Real time ePCR demonstrated that transcript is reduced in the adult mutant brain, and that this allele is a hypomorph.
  • mutations:
  • Insertion
  • synonyms:
  • Smad8<3loxP>,
  • Smad8<3loxP>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories