Allele/Variant

Setxtm1.1Als

Species
Mus musculus
Symbol
Setxtm1.1Als
Category
allele
Allele of gene
Setx
Transgenic Constructs
None
Synonyms
  • Setx-L389S
Description
A leucine to serine substitution at position 389 (L389S) was introduced in exon 10 and a loxP-flanked neomycin resistance was inserted upstream of exon 10 and then removed via cre-mediated recombination. The L389S mutation is one of two identified to date in individuals with amyotrophic lateral sclerosis type 4 (ALS4).
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
    Evidence
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