Tmem94<em1Mcvm> Endonuclease-mediated Allele Detail MGI Mouse (MGI:6358488)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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)

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