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Exons 5 and 6, containing 60 amino acids comprising most of the EF-hand-containing oxygen donation and ion-binding domains, were replaced with a PGK-neo. Exons 4 and 7 were spliced together and resulted in a mutant transcript and protein lacking exons 5 and 6, as shown by Northern blot analysis, RT-PCR and Western blot. (J:95901)
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
