A mutant human cDNA coding for the transmembrane and cytoplasmic domains of the receptor was inserted in-frame into mouse genomic sequences. The mutations resulted in alterations of two multifunctional tyrosinase motifs: Y1349VHVNATY1356VNV to Y1349MDMSATY1356MDMS. A floxed neo included in the construct was excised by crossing with Cre deleter mice. (J:94030)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count