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Borcs7Q87X
Spontaneous Allele Detail
Nomenclature
Symbol: Borcs7Q87X
Name: BLOC-1 related complex subunit 7; Q87X
MGI ID: MGI:6281438
Gene: Borcs7  Location: Chr19:46678345-46691821 bp, + strand  Genetic Position: Chr19, 38.97 cM, cytoband D1
Mutation
origin
Strain of Origin:  129S6/SvEvTac or C57BL/6 or DBA/2
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsA spontaneous C-to-T mutation was identified that is a single base pair substitution in exon 4 generating a nonsense mutation in which the glutamine at amino acid 87 is mutated to a premature stop codon (Q87X) and results in a truncated protein lacking 18 amino acids at its C terminus. The mutation occurred spontaneously on a mixed background consisting of 129S6/SvEvTac, C57BL/6 and DBA/2. (J:271219)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  4 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
08/03/2022
MGI 6.21
The Jackson Laboratory