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Allele : Vps52<t-w5> VPS52 GARP complex subunit; t, wild 5

Primary Identifier  MGI:5469352 Allele Type  Spontaneous
Gene  Vps52 Strain of Origin  wild-derived
Is Recombinase  false Is Wild Type  false
molecularNote  A 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.
  • mutations:
  • Nucleotide repeat expansion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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2 Publication categories