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Allele : Afg3l2<tm1.1Alfb> AFG3-like AAA ATPase 2; targeted mutation 1.1, Alfredo Brusco

Primary Identifier  MGI:6368631 Allele Type  Targeted
Attribute String  Not Specified Gene  Afg3l2
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  Using a recombineering approach, a c.1994T>G point mutation was engineered in exon 16 to change codon 665 from methionine to arginine (p.Met665Arg). The FRT site flanked neomycin resistance gene cassette that was inserted into intron 15, was removed through subsequent flp-mediated recombination. This mutation mimics the p.Met666Arg mutation found in human spinocerebellar ataxia 28 (SCA28) patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Afg3l2<M665R>,
  • Afg3l2<M665R>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele