Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Mlanatm1.2Bee
Name:	melan-A; targeted mutation 1.2, Friedrich Beermann
MGI ID:	MGI:5476663
Synonyms:	MART-1-, Mlanako
Gene:	Mlana  Location: Chr19:29675224-29686034 bp, + strand  Genetic Position: Chr19, 24.28 cM, cytoband C2
Alliance:	Mlanatm1.2Bee page

Germline Transmission:	Earliest citation of germline transmission: J:194886
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129S/SvEv

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: The targeting construct introduced loxP sites flanking the second and third exons and a frt-flanked neomycin resistance cassette (Pgk-neo) immediately upstream of the first loxP site, in the first intron. Mice bearing the resultant Mlanatm1Bee allele were crossed sequentially to FLP and Cre recombinase-expressing mice to delete the Pgk-neo cassette (producing Mlanatm1.1Bee) and the loxP-flanked exons, respectively. The deleted exons 2, containing the translation initiating ATG, and 3 together encode the transmembrane domain of the protein. Reverse transcription-polymerase chain reaction (RT-PCR) analysis demonstrated the absence of Mlana transcripts in skin of mice homozygous for the present mutation. No MLANA protein was detected either by western blot analysis of extracts of melanocytes cultured from the mutant mice or by immunohistologic analysis of these melanocytes or of skin sections using antibodies to the protein's C-terminus. (J:194886)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Mlana Mutation:	9 strains or lines available

Original:	J:194886 Aydin IT, et al., Coat color dilution in mice because of inactivation of the melanoma antigen MART-1. Pigment Cell Melanoma Res. 2012 Jan;25(1):37-46
All:	1 reference(s)