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Hmgcrem1Bcgen
Endonuclease-mediated Allele Detail
Summary
Symbol: Hmgcrem1Bcgen
Name: 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; endonuclease-mediated mutation 1, Biocytogen LLC
MGI ID: MGI:6515596
Synonyms: HMGCR(K248R), HmgcrKI
Gene: Hmgcr  Location: Chr13:96785475-96807444 bp, - strand  Genetic Position: Chr13, 50.65 cM
Alliance: Hmgcrem1Bcgen page
Mutation
origin
Strain of Origin:  Not Applicable
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsCRISPR-targeting produced the amino acid substitution of lysine with arginine at position 248 (K248R). (J:299971)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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:299971 Lu XY, et al., Feeding induces cholesterol biosynthesis via the mTORC1-USP20-HMGCR axis. Nature. 2020 Dec;588(7838):479-484
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory