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ENU induced a C to T substitution at nucleotide position 118 that is predicted to result in a nonsense mutation (Q40X) in exon 2. Q-PCR on RNA from fetal liver cells indicates that transcript expression is reduced in homozygotes and heterozygotes. (J:149205, J:190446)
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
