Version: 8.0.0
Date: Tue Jan 28 2025
Smn1tm1.1Dscd
MGI:4836979
Allele of Smn1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Smn1tm1.1Dscd

Species
Mus musculus
Symbol
Smn1tm1.1Dscd
Category
allele
Allele of gene
Smn1
Transgenic Constructs
None
Synonyms
  • Smn C>T
Description
Exon 7 was replaced with one in which a C to T transition, mimicking a mutation found in proximal spinal muscular atrophy (SMA) patients, results in exclusion of exon 7 from the premRNA. An FRT flanked neo cassette inserted upstream of exon 7 and was removed by flp mediated recombination. Reduced protein expression was confirmed by western blot analysis on kidney, liver, brain, spinal cord, and quadricep extracts.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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