Cwh43^em2Mdj
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cwh43^em2Mdj
• Name: cell wall biogenesis 43 C-terminal homolog; endonuclease-mediated mutation 2, Mark D Johnson
• MGI ID: MGI:7437696
• Synonyms: CWH43^A530
• Gene: Cwh43 Location: Chr5:73563418-73610778 bp, + strand Genetic Position: Chr5, 38.78 cM
• Alliance: Cwh43^em2Mdj page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 10 bp deletion (ACCAGCCATA) that results in a frameshift and immediate premature stop codon in place of alanine codon 530 (p.A530*fs*1). (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: 1 reference(s)