The targeting construct inserted into the locus a CAG promoter, loxP-flanked transcriptional STOP cassette, and a mutant mouse Slc39A14 with a T to G mutation at position 1535 resulting in a lucine to arginine substitution at amino acid 438 (L438R). Cre-mediated recombination is necessary to remove the STOP cassette and get expression of the mutant protein. (J:261326)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count