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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Tmem94^em1Mcvm/Tmem94^em1Mcvm	C57BL/6-Tmem94^em1Mcvm

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cardiovascular system	√
abnormal cardiac muscle tissue morphology	√
abnormal heart development	√
abnormal heart atrium auricular region morphology	√
globular heart	√
small heart	√
abnormal heart ventricle morphology	√
internal hemorrhage	√
cellular	√
abnormal neuronal migration	√
craniofacial	√
abnormal craniofacial bone morphology	√
abnormal facial morphology	√
short nasal bone	√
round head	√
growth/size/body	√
abnormal facial morphology	√
short nasal bone	√
round head	√
decreased fetal size	√
fetal growth retardation	√
mortality/aging	√
neonatal lethality, complete penetrance	√
muscle	√
abnormal cardiac muscle tissue morphology	√
nervous system	√
abnormal neuronal migration	√
abnormal cortical plate morphology	√
absent subplate	√
abnormal neocortex morphology	√
respiratory system	√
short nasal bone	√
skeleton	√
abnormal craniofacial bone morphology	√
short nasal bone	√

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

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)