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33 base-pairs that encode a beta-hairpin loop were deleted from exon 7. A floxed neomycin cassette was included downstream of exon 4 for targeting purposes. Correct targeting was confirmed by genomic PCR. RNA Expression of the locus was 8% of normal in homozgyote bone marrow. The 11-amino acid beta-hairpin loop in the cytoplasmic domain of the protein product is responsible for ankyrin binding in erythrocytes. (J:152245)
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
