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Lrp6tm1Arma
Targeted Allele Detail
Nomenclature
Symbol: Lrp6tm1Arma
Name: low density lipoprotein receptor-related protein 6; targeted mutation 1, Arya Mani
MGI ID: MGI:5621006
Synonyms: Lrp6mut, LRP6R611C
Gene: Lrp6  Location: Chr6:134423439-134543876 bp, - strand  Genetic Position: Chr6, 65.37 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:210538
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
 
Mutation detailsNucleotide substitutions result in the amino acid substitution of cysteine for arginine at position 593 (R593C; the equivalent to the human R611C mutation). (J:210538)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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 Lrp6 Mutation:  58 strains or lines available
References
Original:  J:210538 Go GW, et al., The combined hyperlipidemia caused by impaired Wnt-LRP6 signaling is reversed by Wnt3a rescue. Cell Metab. 2014 Feb 4;19(2):209-20
All:  4 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
01/12/2022
MGI 6.17
The Jackson Laboratory