Primary Identifier | MGI:1856094 | Allele Type | Spontaneous |
Gene | Mitf | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6Bn | Is Recombinase | false |
Is Wild Type | false |
description | Mitfmi-ew, eyeless white, recessive. This mutation occurred spontaneously at the University of Kansas. Homozygotes have white coat color. The eyes are undeveloped and eyelids never open. Heterozygotes with various other Mitf mutations have been described (J:30755). The DNA lesion is a deletion of a portion of the Mitf gene, including the basic region (J:21366). |
molecularNote | A-to-T transversion four nucleotides downstream of the exon 6b donor site. This mutation is likely to be sufficient to abolish normal splicing, leading to exon skipping and an mRNA missing exons 6a/6b. |