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Allele : Mmut<tm1.1Mrb> methylmalonyl-Coenzyme A mutase; targeted mutation 1.1, Matthias R Baumgartner

Primary Identifier  MGI:6157363 Allele Type  Targeted
Attribute String  Hypomorph Gene  Mmut
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting vector was designed to replace thymine with adenine at position 2093, resulting in a methionine to lysine mutation at amino acid 698 (M698K) in exon 12, which corresponds to the human M700L missense mutation seen in some methylmalonic aciduria patients. A FRT-flanked neomycin selection cassette was inserted downstream of exon 12 and was removed via FLP-mediated recombination. Western blot analysis indicates significantly reduced level of protein in homozygotes and Mut enzyme activity is greatly decreased.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Mut<ki>,
  • Mut<ki>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

7 Publication categories

Trail: Allele