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EN
ENU treatment caused an T>C splice donor site mutation at the exon 47/intron 47 boundary, changing it from C-GT to C-GC. This results in a mis-spliced transcript with 4 intronic nucleotides added to the 3' of exon 47, caused by the use of a cryptic A-GT splice site, which in turn leads to a frameshift and a premature stop codon. This truncates the putatively translated peptide upstream of the highly conserved ABC domain. (J:239943)
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
