Hmgcr^tm1.1Eihl
Targeted Allele Detail

Summary

• Symbol: Hmgcr^tm1.1Eihl
• Name: 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; targeted mutation 1.1, Bruce E Kemp
• MGI ID: MGI:8288356
• Synonyms: Hmgcr seR871ala KI
• Gene: Hmgcr Location: Chr13:96785475-96807444 bp, - strand Genetic Position: Chr13, 50.65 cM
• Alliance: Hmgcr^tm1.1Eihl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:379161
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A modified copy of the 5' end of exon 20 (that includes part of the 3' UTR) and a loxP site flanked neomycin resistance gene cassette were inserted into intron 19. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation entails changing serine codon 871 (TCA) to alanine (GCC) (p.S871A). In the encoded protein, the mutation changes a phosphorylatable residue to one that cannot be phosphorylated. This allele expresses the mutated protein. (J:379161)

Expression

In Structures Affected by this Mutation:

2 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 Hmgcr Mutation: 62 strains or lines available

References

• Original: J:379161 Loh K, et al., Inhibition of Adenosine Monophosphate-Activated Protein Kinase-3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Signaling Leads to Hypercholesterolemia and Promotes Hepatic Steatosis and Insulin Resistance. Hepatol Commun. 2019 Jan;3(1):84-98
• All: 2 reference(s)