Slc33a1^tm1.1Lpu
Targeted Allele Detail

Summary

• Symbol: Slc33a1^tm1.1Lpu
• Name: solute carrier family 33 (acetyl-CoA transporter), member 1; targeted mutation 1.1, Luigi Puglielli
• MGI ID: MGI:5634280
• Synonyms: AT-1^S311R
• Gene: Slc33a1 Location: Chr3:63849744-63872154 bp, - strand Genetic Position: Chr3, 30.08 cM, cytoband E1-E3
• Alliance: Slc33a1^tm1.1Lpu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:211266
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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. (J:211266)

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc33a1 Mutation: 25 strains or lines available

References

• Original: J:211266 Peng Y, et al., Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer. J Neurosci. 2014 May 14;34(20):6772-89
• All: 7 reference(s)