Acss2^em1Reh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Acss2^em1Reh
• Name: acyl-CoA synthetase short-chain family member 2; endonuclease-mediated mutation 1, Robert E Hammer
• MGI ID: MGI:6780719
• Gene: Acss2 Location: Chr2:155359963-155404663 bp, + strand Genetic Position: Chr2, 77.26 cM, cytoband H2
• Alliance: Acss2^em1Reh page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Altered localization)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated acidic amino acid substitutions for basic amino acid residues, arginine and lysine (RK) to glutamate and aspartate (ED), in the putative nuclear localization signal KTRSGKIMRRVLRK. The mRNA levels in the homozygotes are reduced to approximately 50% of levels in wild-type mice while protein levels are reduced more significantly. (J:282290)

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 Acss2 Mutation: 56 strains or lines available

References

• Original: J:282290 Nagati JS, et al., A substitution mutation in a conserved domain of mammalian acetate-dependent acetyl CoA synthetase 2 results in destabilized protein and impaired HIF-2 signaling. PLoS One. 2019;14(11):e0225105
• All: 1 reference(s)