A 3 nucleotide insertion of GGG is detected at the start of exon 2 in a stretch of consecutive G nucleotides (9 in the wild-type C57BL/6 sequence). The insertion of an additional G relative to Vps52t-w5 restores the reading frame to a wild-type reading frame. Western blot analysis with an antibody directed against amino acids 496-509 detects the protein band in kidney tissue from homozygous mice. This mutation is found in the tw5G haplotype. (J:190873)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
wild-derived
Spontaneous
Nucleotide repeat expansion
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1
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1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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