Spag17^{tm1d(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Spag17^{tm1d(KOMP)Wtsi}
• Name: sperm associated antigen 17; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:5636740
• Synonyms: Spag17^-
• Gene: Spag17 Location: Chr3:99792722-100050638 bp, + strand Genetic Position: Chr3, 43.25 cM, cytoband F3
• Alliance: Spag17^{tm1d(KOMP)Wtsi} page
• IMPC: Spag17 gene page

Mutation origin

• Mutant Cell Line: EPD0234_6_G08
• Germline Transmission: Earliest citation of germline transmission: J:211752
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 99889093 of Chromosome 3 upstream of exon 5 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of exon 5 at position 99889997. Exon 5 is thus flanked by loxP sites. Flp and cre mediated recombination removed the cassette and exon 5. Western blotting showed absence of the encoded protein from tracheal tissue extracts, and immunofluorescence and immunocytochemistry studies confirmed the absence of protein in tracheal epithelial cells and brain ependymal cells from homozygous mutant mice. (J:148605, J:173534, J:211752)

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Spag17 Mutation: 108 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Primary Ciliary Dyskinesia in Spag17^{tm1d(KOMP)Wtsi} homozygous mice (J:211752)

References

• Original: J:211752 Teves ME, et al., Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival. Am J Respir Cell Mol Biol. 2013 Jun;48(6):765-72
• All: 4 reference(s)