Rsph6a^em1Osb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rsph6a^em1Osb
• Name: radial spoke head 6 homolog A (Chlamydomonas); endonuclease-mediated mutation 1, Osaka University
• MGI ID: MGI:6241356
• Synonyms: Rsph6a⁺⁴
• Gene: Rsph6a Location: Chr7:18788615-18808372 bp, + strand Genetic Position: Chr7, 9.46 cM, cytoband A2
• Alliance: Rsph6a^em1Osb page

Mutation origin

• Strain of Origin: (C57BL/6NJcl x DBA/2NJcl)F2

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/cas9 mediated recombination created a 4 bp insertion of TCTG in exon 1 disrupting an MscI recognition site (5'-TGGCCA-3') after the second G. This insertion resulted in a proline to serine mutation at amino acid 67 and a premature stop codon 13 amino acids later. Western blot analysis confirmed the absence of wild-type protein in homozygous mice. (J:266136)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Rsph6a Mutation: 36 strains or lines available

References

• Original: J:266136 Abbasi F, et al., RSPH6A is required for sperm flagellum formation and male fertility in mice. J Cell Sci. 2018 Oct 11;131(19):jcs221648
• All: 1 reference(s)