Tmem53^em1Ikeg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem53^em1Ikeg
• Name: transmembrane protein 53; endonuclease-mediated mutation 1, Shiro Ikegawa
• MGI ID: MGI:6723864
• Synonyms: Tmem53^1bin
• Gene: Tmem53 Location: Chr4:117109148-117125779 bp, + strand Genetic Position: Chr4, 53.43 cM, cytoband D1
• Alliance: Tmem53^em1Ikeg page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Insertion
• Mutation details: CRISPR/cas9 mediated recombination created a 1 bp insertion resulting in a frame-shift mutation. The mutation results in expression of a truncated protein lacking the transmembrane domains. (J:306057)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tmem53 Mutation: 21 strains or lines available

References

• Original: J:306057 Guo L, et al., Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nat Commun. 2021 Apr 6;12(1):2046
• All: 1 reference(s)