This t haplotype includes a mutation in Vps52, Vps52t-w5+Art that inserts a third G nucleotide, in addition to the 2 inserted in Vps52t-w5, at the start of exon 2 in a stretch of consecutive G nucleotides (9 in the wild-type C57BL/6 sequence, 11 in Vps52t-w5). The insertion of an additional G nucleotide restores the reading frame of Vps52 back to the wild-type frame. (J:190873)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
wild-derived
Spontaneous
Nucleotide repeat expansion
Recessive
--
--
3

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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