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This transgene consists of a modified mouse BAC clone RP23-274L11 which contains the entire Kit locus. The Kit locus in the BAC was modified by the insertion of a floxed stop cassette into intron 1 and the insertion of an A to T point mutation in exon 17 resulting in an aspartic acid to valine mutation at position 814. This mutation is homologous to the D816V mutation in humans. This line carries 5 - 6 copies of the transgene. (J:169611)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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References Literature
Title
PMID
Journal
Year
IF
