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| Nomenclature |
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Symbol:
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Sorl1tm1Tew
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Name:
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sortilin-related receptor, LDLR class A repeats-containing;
targeted mutation 1, Thomas E Willnow
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MGI ID: |
MGI:3604352 |
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Synonyms: |
LR11deltaEx4, sorLA- |
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Gene:
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Sorl1
Location:
Chr9:41964720-42124297 bp, - strand
Genetic Position: Chr9,
23.55 cM, cytoband B
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:101417
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin resistance cassette replaced exon 4 sequence downstream of nucleotide 583 (serine 195). Full length protein was not detected in brain homogenates from homozygous mice. A truncated form of the protein that is 162 bps shorter and lacks 54 residues within the N-terminal region of the VPS10p domain is detected at low levels in brain lysates from homozygous and heterozygous mice. (J:101417, J:142501)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Sorl1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:101417
Andersen OM et al.,
"Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein."
Proc Natl Acad Sci U S A 2005 Sep 20;102(38):13461-6
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All: |
5 reference(s)
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Analysis Tools
