The complete molecular nature of this allele has not yet been determined. Restriction site analysis and sequenceing identified the W mutation in which a G-to-A transition exists in the splice donor site of exon 10-intron 10 (changing it from G-GT to G-AT), resulting in the aberrant splicing of exon 9 to 11, skipping exon 10 which encodes the transmembrane domain. Protein produced from this allele could not be discerned from the product of the KitW allele by immunoprecipitation. (J:79128)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
STOCK KitW
Spontaneous
Single point
--
1
27
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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