Allele/Variant

Atl1tm1.1Cbla

Species
Mus musculus
Symbol
Atl1tm1.1Cbla
Category
allele
Allele of gene
Atl1
Transgenic Constructs
None
Synonyms
  • Atl1KI
Description
An AA to GC change resulting in a lysine to alanine substitution at amino acid 80 (p.K80A) was introduced in exon 3. In addition, a loxP site was inserted upstream of exon 3 and an FRT-flanked neomycin resistance cassette and second loxP site were inserted downstream of exon 3. The neomycin resistance cassette was removed via flp-mediated recombination. The p.K80A missense changes abolishes its GPTase activity. qPCR indicates that mRNA levels are similar to wild-type levels, however mutant protein levels in the brain and spinal cord are moderately lower.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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