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ENU mutagenesis induced a G to A intronic point mutation 5 bp downstream of exon 5 that results in skipping of exon 5 and the introduction of a stop codon at position 95 of 1262 amino acids. QRT-PCR confirmed the absence of transcript expression in the brain.
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
