Sequencing of the gene revealed a 5293 nucleotide insertion in the 3' noncoding region. The inserted sequence is a variant of the intracisternal A-particle elements. Mice carrying this allele express a reduced amount of the major gene transcript. The encoded mRNA contains a normal coding region and an abnormally long untranslated region. (J:283376)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count