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This spontaneous single base C-to-T nonsense substitution at coding nucleotide 1195 results in a stop codon at arginine codon 399 (p.R399*) in exon 8, which results in truncation of the protein by 320 amino acids. This mutation does not affect the short (ST) splice variant. (J:142852)
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
