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A spontaneous mutant identified at The Jackson Laboratory. A c.190G>T transversion creates a premature stop codon at glutamic acid codon 64 (p.E64*). The predicted protein that results would lack both a transmembrane domain and a calmodulin interaction domain. mRNA levels are severely reduced and no protein can be detected by immunohistochemistry in the brain. (J:148602)
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
