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ENU mutagenesis induced a G to A point mutation that results in the amino acid substitution of threonine for alanine at position 1068 (A1068T). Immunohistochemistry confirmed normal expression and localization of the protein product. However, channel function is lost. (J:209941)
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
