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A G-to-T splice donor site mutation was introduced in the first nucleotide of intron 2 (c.544+1G>T) to mimic the mutation found in some MODY5 (maturity-onset diabetes of the young) patients. RT-PCR experiments confirmed the skipping of exon 2 and also identified transcripts missing the last 32 bp of exon 2 owing to the use of a cryptic splice donor site. (J:306082)
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
