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Sorl1tm1Tew
Targeted Allele Detail
Nomenclature
Symbol: Sorl1tm1Tew
Name: sortilin-related receptor, LDLR class A repeats-containing; targeted mutation 1, Thomas E Willnow
MGI ID: MGI:3604352
Synonyms: LR11deltaEx4, sorLA-
Gene: Sorl1  Location: Chr9:41964720-42124297 bp, - strand  Genetic Position: Chr9, 23.55 cM, cytoband B
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:101417
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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: 0 strains available      Cell Lines: 0 lines available
Carrying any Sorl1 Mutation:  6 strains or lines available
References
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
All:  11 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
08/25/2015
MGI 6.0
The Jackson Laboratory