Version: 8.0.0
Date: Tue Jan 28 2025
Tg(SMN1-SMN2*)16Cll
MGI:5490785Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Tg(SMN1-SMN2*)16Cll

Species
Mus musculus
Symbol
Tg(SMN1-SMN2*)16Cll
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • SMNRT
Description
This transgene consists of 3.4 kb promoter and 5'-untranslated region from the human SMN1 gene, the complete coding sequence of human SMN2 cDNA containing the silent C to T transition in exon 7 that results in the alternatively spliced transcript without exon 7 (SMNdelta7) and a TAG to TAT alteration in the first stop codon in exon 8 (change from a stop codon to a tyrosine), and the 3'-UTR of SMN1. The TAG to TAT change in exon 8 allows for translational stop codon read-through of the SMNdelta7 and generates an extended SMN2 protein. Thirteen lines were produced.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

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
    Evidence
    Source
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