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Tmem249em1Osb
Endonuclease-mediated Allele Detail
Summary
Symbol: Tmem249em1Osb
Name: transmembrane protein 249; endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
MGI ID: MGI:7495499
Synonyms: Catsperq-
Gene: Tmem249  Location: Chr15:76417411-76419197 bp, - strand  Genetic Position: Chr15, 36.03 cM
Alliance: Tmem249em1Osb page
Mutation
origin
Strain of Origin:  B6D2F1
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 genome editing technology was used to generate an allele with two simultaneous deletions: a 1,291bp deletion removing the region spanning the end of exon 1 to intron 5, and an 11bp deletion in exon 6. The deletions were expected to cause out-of-frame mutations, resulting in early termination of protein translation from the CTG start codon. Western blot and immunocytochemistry analyses confirmed the absence of encoded protein in homozygous null sperm. (J:337426)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Tmem249 Mutation:  1 strain or line available
References
Original:  J:337426 Huang X, et al., A CUG-initiated CATSPERtheta functions in the CatSper channel assembly and serves as a checkpoint for flagellar trafficking. bioRxiv. 2023 Mar 17;
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)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory