Cfap43^em1Sono
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap43^em1Sono
• Name: cilia and flagella associated protein 43; endonuclease-mediated mutation 1, Shinji Ono
• MGI ID: MGI:6457568
• Synonyms: Cfap43^-
• Gene: Cfap43 Location: Chr19:47723706-47825893 bp, - strand Genetic Position: Chr19, 40.41 cM, cytoband D2
• Alliance: Cfap43^em1Sono page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 14 bp deletion in exon 35 resulting in a premature stop codon (p.Asn1532GlysfsTer36) and which is predicted to produce a truncated nonfunctional protein. RT-PCR confirmed the 14 bp deletion. Quantitative RT-PCR detects very low expression in the brain and trachea of homozygotes. (J:285551)

Disease models

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 Cfap43 Mutation: 71 strains or lines available

References

• Original: J:285551 Morimoto Y, et al., Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. Neurology. 2019 May 14;92(20):e2364-e2374
• All: 1 reference(s)