About   Help   FAQ
Cwh43em2Mdj
Endonuclease-mediated Allele Detail
Summary
Symbol: Cwh43em2Mdj
Name: cell wall biogenesis 43 C-terminal homolog; endonuclease-mediated mutation 2, Mark D Johnson
MGI ID: MGI:7437696
Synonyms: CWH43A530
Gene: Cwh43  Location: Chr5:73563418-73610778 bp, + strand  Genetic Position: Chr5, 38.78 cM
Alliance: Cwh43em2Mdj page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory