Cfap206^em1Yxc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap206^em1Yxc
• Name: cilia and flagella associated protein 206; endonuclease-mediated mutation 1, Yunxia Cao
• MGI ID: MGI:6771469
• Synonyms: Cfap206^-
• Gene: Cfap206 Location: Chr4:34688559-34730206 bp, - strand Genetic Position: Chr4, 16.86 cM
• Alliance: Cfap206^em1Yxc page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR-targeting against exons 3 through 11 duplicated an A nucleotide and generated a frameshift variant (c.1430dupA; p.Asn477LysfsTer15; NM_001031743.2). Western blot analysis confirmed the complete absence of protein expression in testicular tissue from homozygous mutant mice. (J:311499)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cfap206 Mutation: 35 strains or lines available

References

• Original: J:311499 Shen Q, et al., Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. Hum Genet. 2021 Sep;140(9):1367-1377
• All: 1 reference(s)