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| Nomenclature |
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Symbol:
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Ldlrap1tm1Her
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Name:
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low density lipoprotein receptor adaptor protein 1;
targeted mutation 1, Joachim Herz
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MGI ID: |
MGI:2670480 |
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Synonyms: |
Arh- |
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Gene:
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Ldlrap1
Location:
Chr4:134744735-134768024 bp, - strand
Genetic Position: Chr4,
67.09 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:84694
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Parent Cell Line:
| SM1 (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-out) |
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Mutation: | |
Insertion |
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Mutation details: Exon 4 was replaced with a neomycin selection cassette that was flanked by both loxP and FRT sites. The deletion of exon 4 disrupts sequence encoding the PTB domain. Normal protein was undetected in homozygous mutant mice by Western blot analysis using an antibody directed against the PTB domain. If aberrant splicing were to occur between exons 3 and 5, a frameshift mutation and resultant nonsense mutation would putatively preclude the translation of the clathrin and adapter protein complex (AP-2) binding sites. (J:84694)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:84694
Jones C et al.,
"Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia."
J Biol Chem 2003 Aug 1;278(31):29024-30
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All: |
4 reference(s)
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Analysis Tools
