| Primary Identifier | MGI:2178439 | Allele Type | Chemically induced (ENU) |
| Gene | Lmx1b | Strain of Origin | BALB/cAnN |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Harwell ENU Mutagenesis |
| description | Phenotypic model of human glaucoma (J:215517) |
| molecularNote | This phenotypic mutant was identified in an ENU mutagenesis screen at Harwell. A single nucleotide change, a T to A transversion in exon 5 (at position 2:33,566,910 in Ensembl Release 74 mouse assembly GRCm38) was identified which was absent from the reference mouse sequence and from an additional 17 mouse strains. This mutation causes the substitution of hydrophobic valine at position 242 with hydrophilic aspartic acid (p.V242D) in the homeodomain of the encoded protein. |
