Hmgcs2^em1Wilh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hmgcs2^em1Wilh
• Name: 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2; endonuclease-mediated mutation 1, Dagmar Wilhelm
• MGI ID: MGI:6416128
• Synonyms: delta647
• Gene: Hmgcs2 Location: Chr3:98187751-98218054 bp, + strand Genetic Position: Chr3, 42.74 cM
• Alliance: Hmgcs2^em1Wilh page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination created a 647 bp deletion spanning most of exon 2 and part of intron 2. The deletion results in a stop codon seven codons after the breakpoint. Immunofluorescence analysis confirmed the absence of expression in ovaries and liver from E14.5 homozygous embryos. (J:285178)

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 Hmgcs2 Mutation: 33 strains or lines available

References

• Original: J:285178 Bagheri-Fam S, et al., The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. PLoS One. 2020;15(1):e0227411
• All: 1 reference(s)