Sorl1^tm1Tew
Targeted Allele Detail

Summary

• Symbol: Sorl1^tm1Tew
• Name: sortilin-related receptor, LDLR class A repeats-containing; targeted mutation 1, Thomas E Willnow
• MGI ID: MGI:3604352
• Synonyms: LR11^deltaEx4, sorLA^-
• Gene: Sorl1 Location: Chr9:41876016-42035593 bp, - strand Genetic Position: Chr9, 23.55 cM, cytoband B
• Alliance: Sorl1^tm1Tew page

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 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)

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: 131 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: 20 reference(s)