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Part of exon 23 was deleted, and the gene interrupted between alternative splice site #5 into the 3' UTR. This knocks out both the alpha and the beta isoforms of the gene. Northern blots demonstrated that mRNA for the beta isoform was undetectable in brain, whereas for the alpha isoform a faint band of lower than wild-type molecular weight was detected. (J:242453)
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
