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EN
ENU mutagenesis induced a T to C transition in position 4 of the splice site donor region of intron 9. Western blot anlaysis confirmed the absence of protein expression in the spinal cord without the detection of truncated proteins. Authors state that this allele is hypomorphic based on phenotypic analysis.
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
