| Primary Identifier | MGI:1856231 | Allele Type | Spontaneous |
| Gene | Mcoln3 | Inheritance Mode | Semidominant |
| Strain of Origin | STOCK Mcoln3<Va> | Is Recombinase | false |
| Is Wild Type | false |
| description | This mutation was found in a linkage cross involving Mcoln3Va, and probably arose by mutation from Mcoln3Va. (J:5286) |
| molecularNote | This allele has a T-to-C transition at coding nucleotide 1085 within exon 8. This results in a change from isoleucine to threonine at amino acid 362 (p.I362T) in the second extracellular loop. The Mcoln3Va-J allele, which arose on a strain segregating for the more severe Mcoln3Va allele, also has the G-to-C transversion at coding nucleotide 1255 (p.A419P) specific to the Mcoln3Va allele indicating that the Mcoln3Va-J allele contains an additional point mutation to the Mcoln3Va allele. The less severe phenotype of the Mcoln3Va-J allele suggests that the T-to-C transition at nucleotide 1085 might mitigate the effects of the G-to-C mutation at nucleotide 1255 although the impact of genetic background must be considered. The encoded protein can be detected in the hair cells of heterozygous and homozygous mice. |
