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The causative mutation is a T-to-A substitution in the intron upstream of exon 4 of Vps15 (GRCm38p4, chr9: 105,650,312). The T-to-A mutation creates a novel splice acceptor site, which is predicted to introduce a premature stop codon resulting in a truncated protein of 289 amino acids. (J:258027)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
