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Exon 5 was deleted using CRISPR/Cas9 mutagenesis. qPCR analysis revealed that mRNA transcripts were reduced in the liver, whole brain, pituitary gland, dentate gyrus, and hypothalamus of heterozygous mutant mice. Western blot analysis confirmed the reduction of protein levels in heterozygous P0 limbs and P45 whole brain extracts, and the absence of protein in homozygous P0 mutant pups. (J:256668)
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
