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Allele : Slc33a1<tm1.1Lpu> solute carrier family 33 (acetyl-CoA transporter), member 1; targeted mutation 1.1, Luigi Puglielli

Primary Identifier  MGI:5634280 Allele Type  Targeted
Attribute String  Null/knockout Gene  Slc33a1
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2>
Is Recombinase  false Is Wild Type  false
molecularNote  A serine to arginine substitution was introduced at amino acid 113 and a floxed pgk-neo cassette was inserted via homologous recombination. Cre mediated recombination removed the neo cassette. The mutation impairs the ability of the protein to form homodimers in the ER membrane. The resulting protein is devoid of acetyl-CoA transport activity.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • AT-1<S311R>,
  • AT-1<S311R>
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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

9 Publication categories

Trail: Allele