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Allele : Setx<tm1.1Als> senataxin; targeted mutation 1.1, Albert La Spada
Primary Identifier  MGI:6881752 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Setx
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  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).
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Setx-L389S,
  • Setx-L389S
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele

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Trail: Allele




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