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The mutation is an A-to-C transversion at the -2 position 5' off exon 8 in intron 7, changing splice acceptor site CAG to CCG. This results in aberrant splicing of the transcript. Immunoblotting detected no intact NCF1 protein in cells from these mice. (J:83428)
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
