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This phenotypic allele was identified in an ethylmethanesulfonate (EMS) mutagenesis screen for neurological phenotypes. The molecular defect is a 5 base pair deletion between nucleotides 30 and 34 in a highly conserved region located in the U2 consensus branch site sequence (BSRS) and the linker region between the BSRS and the U2/U6 helix. (J:179357)
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
