| First Author | Karst SY | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:213765 |
| Mgi Id | MGI:5586539 | Citation | Karst SY, et al. (2014) X-linked hair loss, a spontaneous mutation similar to bad hair day. MGI Direct Data Submission |
| abstractText | A mutation that causes a hair loss phenotype, which resembles the X-linked semi-dominant mutation bad hair day (Bhrd), arose spontaneously in a mutant subline of MRL/MpJ-Fas<lpr>/J that had been outcrossed to B6C3F1. Heterozygous females have patches of fur missing from the coat and this phenotype gets a little worse with age. Hemizygous males are almost bald and homozygous females are almost as bald as hemizygous males. Outcrossing a mutant to FVB/NJ produced mutant and normal offspring with the males more affected than the females, and breeding a wild-type female with a mutant male produced only affected females, proving this a semi-dominant X-linked mutation. We have named this mutation X-linked hair loss (Xlhl). Both female and male mutant mice live normal lifespans and breed normally, and heterozygous females, hemizygous males, and homozygous females all breed. Backcrossing this mutation onto the C57BL/6J background did not alter the phenotype. Histological assessment of one heterozygous female and one hemizygous male at four weeks of age found mild follicular dysplasia in the heterozygote while the male hemizygote had follicular dysplasia like that of the rhino mutant mouse. This male also had a small area of dysplasia in the mucosa of the glandular stomach with immature crypt cells all along the crypt up to the surface. SNP analysis was run on an FVB/NJ N2 backcross mapping population generated by crossing an F1 heterozygous female with an FVB/NJ male. Of two heterozygous females and eight hemizygous males only two males showed recombination with rs13483805 (position 90,194,821 bp), and only one hemizygous male showed recombination with rs13483918 (position 102,906,863 bp), rs3664601 (position 130,290,915 bp) and rs3723498 (position 144,314,241 bp) (GRCm38.p1) placing Xlhl distal to position 144,314,241 bp. The bad hair day mutation (Bhrd) mapped distal to DXMit10 (position 151,323,804 bp) and non-recombinant with DXMit156 (163,318,923 bp), DXMit160 (167,228,266 bp), DXMit29 (167,906,434 bp), and DXMit30 (168,412,387 bp). |
