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

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Intragenic deletion
--
1
1
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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