The mutation in md has been attributed to a 5 kb retroviral insertion located in the intronic region 5' of exon 12. Northern analysis and RT-PCR indicate that the expression of transcript is greatly reduced in these mice. (J:80182)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count