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An A-to-G mutation 7 nucleotides upstream of the 3' end of exon 2 changes splicing: a cryptic G-GT splice donor site 12 bp upstream of the regular A-GT donor site is used, causing the loss of 12 bp (GTGGaTATCAGA, with the mutated nucleotide in lower case) in mature transcripts and the corresponding 4 amino-acids (43-46: VDIR) in the encoded peptide. (J:287198)
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
