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The molecular lesion is a C-to-G transition in codon 289, resulting in a threonine to arginine change (p.T289R) in a highly conserved region of the encoded protein. The encoded protein is expressed at similar levels and a similar spatiotemporal manner in controls and in homozygous mice, as assayed by immunohistochemistry. (J:240361)
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
