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Vps52t-w5
Spontaneous Allele Detail
Summary
Symbol: Vps52t-w5
Name: VPS52 GARP complex subunit; t, wild 5
MGI ID: MGI:5469352
Gene: Vps52  Location: Chr17:34174786-34186009 bp, + strand  Genetic Position: Chr17, 17.98 cM
Alliance: Vps52t-w5 page
Mutation
origin
Strain of Origin:  wild-derived
Mutation
description
Allele Type:    Spontaneous
Mutation:    Nucleotide repeat expansion
 
Mutation detailsA 2 nucleotide insertion of GG is detected at the start of exon 2 in a stretch of consecutive G nucleotides (9 in the wild-type C57BL/6 sequence) resulting in a frameshift mutation that generates a premature termination codon. Western blot analysis with an antibody directed against amino acids 496-509 does not detect the protein band in homozygous embryonic stem cells. This mutation is found in the tw5 haplotype. (J:190873)
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 Vps52 Mutation:  42 strains or lines available
References
Original:  J:190873 Sugimoto M, et al., Molecular identification of t(w5): Vps52 promotes pluripotential cell differentiation through cell-cell interactions. Cell Rep. 2012 Nov 29;2(5):1363-74
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
12/10/2024
MGI 6.24
The Jackson Laboratory