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Sequence analysis of genomic DNA shows this allele is the result of an intracisternal A particle transposon insertion into intron 10 of the erythroid alpha-spectrin gene. This leads to abnormal splicing and an in-frame deletion of 46 amino acids from repeat 5 of alpha spectrin. (J:66966)
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
