Siae^tm1.2Avrk
Targeted Allele Detail

Summary

• Symbol: Siae^tm1.2Avrk
• Name: sialic acid acetylesterase; targeted mutation 1.2, Ajit Varki
• MGI ID: MGI:3830710
• Synonyms: Lse^-, Siae^delta2
• Gene: Siae Location: Chr9:37525117-37559554 bp, + strand Genetic Position: Chr9, 20.79 cM
• Alliance: Siae^tm1.2Avrk page

Glomerulonephritis in Siae^tm1.2Avrk/Siae^tm1.2Avrk mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:144035
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Null/knockout) Mutation: Intragenic deletion Mutation details: 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 Siae^tm1.1Pil 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)

Generation of the Siae^tm1.1Avrk and Siae^tm1.2Avrk alleles

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Siae Mutation: 33 strains or lines available

Notes

In J:144035, the floxed exon 2 was deleted in the germline by mating ES cell generated C57BL/6 chimeras with C57BL/6-Zona pellucida 3(Zp3)-Cre mice.

References

• Original: J:144035 Cariappa A, et al., B cell antigen receptor signal strength and peripheral B cell development are regulated by a 9-O-acetyl sialic acid esterase. J Exp Med. 2009 Jan 16;206(1):125-38
• All: 2 reference(s)