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An allele carrying point mutations H395K and H399K in exon 8 was inserted via homologous recombination. Inactivation of the N-terminal catalytic site was confirmed using an N-terminal specific substrate. Expression of the mutant protein was shown to be equivalent to expression of the normal protein by western blot analysis. (J:89512)
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
