The open-eyelid mutation, lidgap-Gates, is an eight-exon deletion in the mouse Map3k1 gene.
The BALB/cGa mouse strain and its descendants, now called the SELH/Bc strain, have produced two waves of high frequency of spontaneous heritable mutations. One of these, the recessive lidgap-Gates (lg(Ga)) mutation, causes the same open-eyelids-at-birth phenotype as the gene knockout mutations of Map3k1 and co-maps to distal Chr 13. The lg(Ga) mutation is demonstrated to be a 27.5-kb deletion of exons 2-9 in the Map3k1 gene, the first spontaneous mutant allele described at this locus. The lg(Ga) mutation is consistent with a pattern suggesting that the waves of mutation in BALB/cGa and its descendants tend to be large deletions or ETn insertions, whose elevated rate of occurrence is due to an unknown mechanism.
Juriloff
Diana M
DM
Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, BC, Canada V6T 1Z3. juriloff@interchange.ubc.ca
Harris
Muriel J
MJ
Mah
Diana G
DG
D000818:Animals; D002875:Chromosomes / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005143:Eyelids; D048728:MAP Kinase Kinase Kinase 1 / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D016254:Mutagenesis, Insertional; D017384:Sequence Deletion / Q000235:genetics*
D048728:MAP Kinase Kinase Kinase 1