Cwh43^em1Mdj
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cwh43^em1Mdj
• Name: cell wall biogenesis 43 C-terminal homolog; endonuclease-mediated mutation 1, Mark D Johnson
• MGI ID: MGI:7437687
• Synonyms: CWH43^M533
• Gene: Cwh43 Location: Chr5:73563418-73610778 bp, + strand Genetic Position: Chr5, 38.78 cM
• Alliance: Cwh43^em1Mdj page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a CA-to-G change resulting in a frameshift and immediate premature stop codon in place of methionine codon 533 (p.M533*fs*1). This corresponds to the human chr4:49034669CA>C:p.L533*fs* mutation associated with idiopathic normal pressure hydrocephalus (iNPH). Immunohistochemistry shows loss of expression in the ventricular epithelia of homozygous mice. (J:310176)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Cwh43 Mutation: 46 strains or lines available

References

• Original: J:310176 Yang HW, et al., Deletions in CWH43 cause idiopathic normal pressure hydrocephalus. EMBO Mol Med. 2021 Mar 5;13(3):e13249
• All: 2 reference(s)