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A cassette containing a reverse orientation (relative to Nespas) polyadenylation sequence and a self-excising neo cassette was inserted into exon 1. Cre-mediated recombination removed the neo cassette. The 94% reduction in Nespas transcript expression was confirmed by RT-qPCR on newborn brain extracts with paternal inheritance of the allele. RT-qPCR on newborn brain extracts confirmed reduced Nesp (Gnas) expression when the allele is inherited marternally but increased expression when the allele is paternally inherited. (J:171195)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
