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The targeting construct contains an attB site, mouse Hsp68 minimal promoter, a human regulatory region (H2), mouse Kitl cDNA, SV40, an attB site and FRT5. The construct and phiC31 mRNA were co-injected into a single pronucleus of FVB-H11P3 zygotes. H2 is regulatory enhancer located in an intergenic region 350 kb upstream of the Kitl transcription start site, it contains a non-coding SNP (rs12821256) associated with hair color. The ancestral (ANC) polymorphism (A) is associated with brown hair, and the blond (BLD) polymorphism (G) is associated with blond hair. This allele carries the G polymorphism. (J:248381)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
