Cfap45^em1Hmd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap45^em1Hmd
• Name: cilia and flagella associated protein 45; endonuclease-mediated mutation 1, Hiroshi Hamada
• MGI ID: MGI:6509073
• Synonyms: Cfap45^-
• Gene: Cfap45 Location: Chr1:172348697-172373437 bp, + strand Genetic Position: Chr1, 79.91 cM
• Alliance: Cfap45^em1Hmd page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 mediated genome editing technology was used to delete exon 3. Immunofluorescence microscopy analysis confirmed the absence of protein in respiratory cilia of the trachea, multiciliated epithelia of the Fallopian tube, and multiciliated ependyma of the brain in homozygous mutant mice. (J:297786)

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cfap45 Mutation: 34 strains or lines available

References

• Original: J:297786 Dougherty GW, et al., CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Nat Commun. 2020 Nov 2;11(1):5520
• All: 1 reference(s)