Smad9^tm1Mwst

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Species

Mus musculus

Symbol

Smad9^tm1Mwst

Category

allele

Allele of gene

Smad9

Transgenic Constructs

None

Synonyms

• Smad8^3loxP

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations