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Exons 4, 5, and 6 were replaced by a neomycin resistance gene in reverse orientation. RT-PCR confirmed the absence of normal transcript. A low level of truncsted transcript lacking exon 3 in addition to exons 4, 5, and 6 was detected. Western blot analysis confirmed the absence of protein in brain, heart, and platelets. (J:182299)
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
