This locus can generate two alternatively spliced variants that encode either a lysosomal sialic acid acetylesterase (Lse) or a cytosolic esterase (Cse). Exon 2 is unique to the Lse transcript and was flanked by loxP sites creating the Siaetm1.1Pil allele. A truncated mRNA lacking exon 2 from the gene locus was detected in homozygote splenocytes. Defective Lse activity was inferred from increased 9-O-acetylated alpha2 -6-linked sialic acid moieties on B cells. Cse mRNA was found to be transcribed in these mice. (J:144035)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count