The targeting construct contained 6.0 kb of the upstream region and the entire coding region of the human transthyretin gene. The coding sequence contained a methionine to valine substitution mutation at position 30. Transgenic transthyretin transcript was detected in liver, brain, kidney, and yolk sac. In some cases aberrant transcript that was larger than normal transcript was detected. (J:91391)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count