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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:101417
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  66 strains or lines available
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:  14 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory