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An intracisternal A particle (IAP) was found to have inserted at the downstream donor splice site of exon 1. Primary transcripts are prematurely terminated and a chimeric mRNA including fused IAP sequence is produced. Expression of full length mRNA is reduced to about 5% of normal. Expression of full length and chimeric mRNA is reduced to about 60% relative to controls. (J:132712)
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
