The mutation in the tlt mouse has been identified as a C-to-A transversion at coding nucleotide 452 in the third exon of the gene. This results in a alanine to glutamic acid change at amino acid position 151 (p.A151E). (J:82639)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count