Hmgcr^tm1.1Radb
Targeted Allele Detail

Summary

• Symbol: Hmgcr^tm1.1Radb
• Name: 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; targeted mutation 1.1, Russell A DeBose-Boyd
• MGI ID: MGI:6154011
• Synonyms: hmgcr^Ki
• Gene: Hmgcr Location: Chr13:96785475-96807444 bp, - strand Genetic Position: Chr13, 50.65 cM
• Alliance: Hmgcr^tm1.1Radb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:235015
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A lysine to arginine mutation at amino acid 89 (AAG to AGG; K89R) was introduced in exon 3 and a lysine to arginine mutation at amino acid 248 (AAA to AGA; K248R) was introduced in exon 8. In addition, a FRT-flanked Neo cassette was introduced upstream of exon 3 and a FRT3-flanked Hygro cassette was inserted downstream of exon 8. Flp-mediated recombination removed both the Neo and Hygro resistance genes. These mutations abolish sterol-induced ubiquitination and subsequent degradation of HMGCR. Immunoblot analysis indicate an approximate 6- and 14-fold accumulation of HMGCR protein in the livers of heterozygous and homozygous mice, respectively, despite reduced mRNA levels. (J:235015)

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 Hmgcr Mutation: 62 strains or lines available

References

• Original: J:235015 Hwang S, et al., Contribution of Accelerated Degradation to Feedback Regulation of 3-Hydroxy-3-methylglutaryl Coenzyme A Reductase and Cholesterol Metabolism in the Liver. J Biol Chem. 2016 Jun 24;291(26):13479-94
• All: 2 reference(s)