Summary | Mutation origin | Mutation description | Find Mice (IMSR) | Notes | References

Symbol:	Igs2tm1Kng
Name:	intergenic site 2; targeted mutation 1, David M Kingsley
MGI ID:	MGI:6095646
Synonyms:	ANC-Kitlg
Gene:	Igs2  Location: unknown  Genetic Position: Chr11, Syntenic
Alliance:	Igs2tm1Kng page

Germline Transmission:	Earliest citation of germline transmission: J:248381
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Reporter) Mutation:    Insertion   Mutation details: 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 BLD polymorphism (G) is associated with blond hair. This allele carries the A polymorphism. (J:248381)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Igs2 Mutation:	68 strains or lines available

Original:	J:248381 Guenther CA, et al., A molecular basis for classic blond hair color in Europeans. Nat Genet. 2014 Jul;46(7):748-52
All:	1 reference(s)