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This allele carries a premature stop codon, which results in the expression of C-terminally truncated protein (cutting 343 AAs; WT: 2139 AA, mutant: 1796 AA) at Gly-1796 with an extension of Leu-Ser-Lys-STOP, as well as an alternatively spliced, second variant ending at Gly-1796 with a LSATPERAREPR extension. The absence of the distal C-terminus peptide was confirmed by immunohistochemistry on heart sections. (J:171162)
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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References Literature
Title
PMID
Journal
Year
IF
