The toffee mutation corresponds to T-to-C transition in the donor splice site of intron 9 (GTAATT->GCAATT) (nucleotide position 16609 in the Genbank genomic region NC_000073) that destroys the splice site, resulting in the usage of a downstream sequence within intron 9 for splicing. Thus, 23 nucleotides from the 5' end of intron 9 are inserted into the transcript and the reading frame shifts folowing the insertion. (J:133272)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
1

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

References Literature

Title
PMID
Journal
Year
IF
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