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Smad9tm1Mwst
Targeted Allele Detail
Summary
Symbol: Smad9tm1Mwst
Name: SMAD family member 9; targeted mutation 1, Michael Weinstein
MGI ID: MGI:3581766
Synonyms: Smad83loxP
Gene: Smad9  Location: Chr3:54663003-54708678 bp, + strand  Genetic Position: Chr3, 25.62 cM, cytoband D
Alliance: Smad9tm1Mwst page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:99098
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutation:    Insertion
 
Mutation detailsA 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. (J:99098)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 8 assay results
In Structures Affected by this Mutation: 2 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 Smad9 Mutation:  32 strains or lines available
References
Original:  J:99098 Hester M, et al., Smad1 and Smad8 function similarly in mammalian central nervous system development. Mol Cell Biol. 2005 Jun;25(11):4683-92
All:  1 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
10/29/2024
MGI 6.24
The Jackson Laboratory