The rat microphthalmia-associated transcription factor gene (Mitf) maps at 4q34-q41 and is mutated in the mib rats.
The rat gene encoding the microphthalmia-associated transcription factor (Mitf) was assigned to rat Chromosome (Chr) 4q34-q41, as well as the Gata2 and Mem1 genes. Rat Chr 4 is homologous to mouse Chr 6 and human Chr 3, which carry the Mitf (MITF) gene in these species (MMU 6, 40.0 cM, and HSA 3p14.1-p12.3). mib/mib rats, which are characterized by depigmentation, microphtalmy, osteopetrosis, and neurological disorders were shown to bear a deletion covering several kilobases of genomic DNA in the Mitf gene and to lack Mitf mRNA. The Mitf mutation in the mib/mib rats is thus very likely to be a Mitf null mutation, causing a phenotype similar to the one observed in the miVGA-9 mice, but including osteopetrosis as an additional feature.
Opdecamp
K
K
Laboratory of Developmental Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.
Vanvooren
P
P
Rivière
M
M
Arnheiter
H
H
Motta
R
R
Szpirer
J
J
Szpirer
C
C
D000818:Animals; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D051379:Mice; D051739:Microphthalmia-Associated Transcription Factor; D008850:Microphthalmos / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051381:Rats; D011922:Rats, Mutant Strains; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D005819:Genetic Markers; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; C497235:Mitf protein, mouse; C497236:Mitf protein, rat; D014157:Transcription Factors