B6.Cg-Mitf^Mi-Mee/J

Stock number: 003046
Product name: microphthalmia, Massachusetts Eye and Ear Infirmary
Research areas: Dermatology Research, Mouse/Human Gene Homologs, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Mitf locus characterized by eye defects.

Detailed description

On the C57BL/6 background, homozygotes have a white coat color while heterozygotes have a black coat. Clinically, heterozygotes have variable amounts of pigment in the retina with a normal optic cup and retinal vessels. Homozygotes have an iris coloboma, a large optic cup and poor or no retinal vessels. Homozygotes show some pigment in the iris, which does not dilate.

Development

The Mitf^Mi-Mee allele (initially named Mitf^Mi-2J) was identified in a transgenic line but is found in mice not bearing this transgene. The trangene originated in an FVB background and was outcrossed to C57BL/6. In 1996 mice not carrying the transgene but bearing the Mitf mutation were imported into The Jackson Laboratory from Dr. Wendy Synder at Mass Eye and Ear. They were at backcross generation N5 to C57BL/6. They were backcrossed another two generations and then maintained by sibling mating primarily heterozygotes x homozygotes.

Allele

Symbol: Mitf^Mi-Mee
Name: microphthalmia, Massachusetts Eye and Ear Infirmary
MGI accession ID: MGI:2175885
Generation method: Spontaneous
Attributes: Not Specified
Synonyms: Mitf^Mi-2J
Marker symbol: Mitf
Marker name: melanogenesis associated transcription factor
Marker synonyms: BCC2; bHLHe32; CMM8; COMMAD; Gsfbcc2; MI; MITF-A; wh; WS2; WS2A
Chromosome: 6
Strain of origin: C57BL/6 x FVB/N
Molecular note: This allele is defined by a noncomplementation test with Mitf^mi.