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Borcs7tm1Bhk
Targeted Allele Detail
Summary
Symbol: Borcs7tm1Bhk
Name: BLOC-1 related complex subunit 7; targeted mutation 1, Beverly H Koller
MGI ID: MGI:6280949
Gene: Borcs7  Location: Chr19:46678345-46691821 bp, + strand  Genetic Position: Chr19, 38.97 cM, cytoband D1
Alliance: Borcs7tm1Bhk page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:271219
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA targeting vector was designed to replace the entire 13.3 kb of the gene, including the entire coding sequence, with a phosphoglycerate kinase-driven neomycin resistance gene. Homologous recombination results in deletion of a segment of chromosome 10 extending from 102,854,233-102,862,254 (GRCh38/hg38). (J:271219)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Borcs7 Mutation:  7 strains or lines available
References
Original:  J:271219 Snouwaert JN, et al., A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice. Cell Rep. 2018 Jul 31;24(5):1254-1265
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory