Tmem94^em1Mcvm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem94^em1Mcvm
• Name: transmembrane protein 94; endonuclease-mediated mutation 1, May Christine V Malicdan
• MGI ID: MGI:6358488
• Gene: Tmem94 Location: Chr11:115656245-115689859 bp, + strand Genetic Position: Chr11, 80.91 cM, cytoband E2
• Alliance: Tmem94^em1Mcvm page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 2 bp deletion (c.361_364delGC) in exon 4 resulting in a frameshift mutation. (J:269160)

Expression

In Structures Affected by this Mutation:

13 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 Tmem94 Mutation: 70 strains or lines available

References

• Original: J:269160 Stephen J, et al., Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. Am J Hum Genet. 2018 Dec 6;103(6):948-967
• All: 2 reference(s)