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The mutation is a 2.4-kb genomic deletion encompassing part of intron 17, exon 18, and sequences encoding the 3'-untranslated region (3'-UTR) of the mRNA. This deletion would result in termination of protein translation at valine 440 (Val440Ter) and thus loss of the 55 C-terminal amino acids, which include the entire C-terminal protein kinase C-like domain. (J:125551)
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
