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EN
ENU induced a G to A transition in intron 10 (c.1065+5 G->A) that disrupts the splicing and produce a transcript that lacks the 27 amino acids. These amino acids are coded by exon 10 and are an integral part of the GTPase domain. Western blot did not detect a protein product produced from this allele and a 50% reduction in endogenous protein levels in heterozygous mice. (J:154966)
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
