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A neo cassette replaced the first exon, which contains the complete 5' UTR, start codon, signal peptide and the first LNS domain. Immunoblotting of mutant brain confirmed lack of protein expression. This knock-out affects the alpha isoform specifically. The beta isoform, transcribed from a downstream promoter, is not affected.. (J:89452)
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
