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Ldlrtm1(LDLR)Mae
Targeted Allele Detail
Nomenclature
Symbol: Ldlrtm1(LDLR)Mae
Name: low density lipoprotein receptor; targeted mutation 1, Nobuyo Maeda
MGI ID: MGI:3691296
Synonyms: hLDLR, LDLRh
Gene: Ldlr  Location: Chr9:21723576-21749916 bp, + strand  Genetic Position: Chr9, 7.87 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67282
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsAbout 8 kb of sequence spanning 3' of intron 1 through exon 4 was replaced with the human LDLR minigene containing exons 2-18 of human sequence. The minigene was shortened by a deletion of two of the three 3' AU-rich elements in exon 18. The mature protein transcribed from the chimeric gene was entirely human protein, due to exon 1 encoding only the signal peptide. (J:67282)
Phenotypes
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ldlr Mutation:  43 strains or lines available
References
Original:  J:67282 Knouff C, et al., Doubling expression of the low density lipoprotein receptor by truncation of the 3'-untranslated region sequence ameliorates type iii hyperlipoproteinemia in mice expressing the human apoe2 isoform. J Biol Chem. 2001 Feb 9;276(6):3856-62
All:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory