Hacl1^tm1.1Pvv
Targeted Allele Detail

Summary

• Symbol: Hacl1^tm1.1Pvv
• Name: 2-hydroxyacyl-CoA lyase 1; targeted mutation 1.1, Paul Van Veldhoven
• MGI ID: MGI:8161181
• Synonyms: Hacl1^-
• Gene: Hacl1 Location: Chr14:31329183-31364201 bp, - strand Genetic Position: Chr14, 19.23 cM, cytoband B
• Alliance: Hacl1^tm1.1Pvv page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:255067
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEvBrd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A LacZ-floxed Neomycin selection cassette replaced 8.3 kb of the gene, including the last codon of exon 3, intron 3 and the complete exon 4. The neomycin selection cassette was removed in the germline via Cre-mediated recombination. Northern blot analysis on total RNA extracted from liver showed a reduction and absence of transcripts in heterozygous and homozygous mutant mice, respectively. Western blot analysis confirmed the absence of protein expression in homozygous mutant livers. (J:255067)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hacl1 Mutation: 30 strains or lines available

References

• Original: J:255067 Mezzar S, et al., Phytol-induced pathology in 2-hydroxyacyl-CoA lyase (HACL1) deficient mice. Evidence for a second non-HACL1-related lyase. Biochim Biophys Acta. 2017 Sep;1862(9):972-990
• All: 1 reference(s)