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| Nomenclature |
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Symbol:
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Ldlrtm1(LDLR)Mae
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Name:
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low density lipoprotein receptor;
targeted mutation 1, Nobuyo Maeda
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MGI ID: |
MGI:3691296 |
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Synonyms: |
hLDLR, LDLRh |
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Gene:
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Ldlr
Location:
Chr9:21723576-21749916 bp, + strand
Genetic Position: Chr9,
7.87 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:67282
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: About 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ldlr Mutation:
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39 strains or lines available |
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| References |
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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
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All: |
8 reference(s)
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Analysis Tools
