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The human promoter drives expression of the mutant dog cDNA of isoform 3 that is truncated at amino acid 601 and the mutation responsible for the amino acid substitutions serine with alanine at position 110 and glutamic acid with glutamine at position 113 S110A/E113Q). (J:104881)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
