Gcn1^em2Itohk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gcn1^em2Itohk
• Name: GCN1 activator of EIF2AK4; endonuclease-mediated mutation 2, Ken Itoh
• MGI ID: MGI:6436701
• Synonyms: Gcn1^deltaRWDBD
• Gene: Gcn1 Location: Chr5:115703313-115760713 bp, + strand Genetic Position: Chr5, 56.1 cM
• Alliance: Gcn1^em2Itohk page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology was used to induce double-strand breaks within introns 45 and 53 and excise exons 46-53, thus deleting the RWD Binding Domain (RWDBD). Immunoblot analysis of homozygous mutant mouse embryonic fibroblasts (MEFs) revealed that the level of protein expression is reduced to 30% relative to that in wild-type MEFs. (J:287528)

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)
Loading...
hm1	Gcn1^em2Itohk/Gcn1^em2Itohk	C57BL/6-Gcn1^em2Itohk

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cellular	√
abnormal cell morphology	√
abnormal cell cycle checkpoint function	√
increased mitotic index	√
abnormal fibroblast physiology	√
decreased fibroblast proliferation	√
craniofacial	√
mandible hypoplasia	√
embryo	√
embryonic growth retardation	√
decreased embryo size	√
growth/size/body	√
embryonic growth retardation	√
decreased embryo size	√
abnormal head morphology	√
decreased fetal size	√
decreased fetal weight	√
fetal growth retardation	√
limbs/digits/tail	√
delayed limb development	√
mortality/aging	√
perinatal lethality, complete penetrance	√
nervous system	√
anencephaly	√
respiratory system	√
atelectasis	√
respiratory failure	√
skeleton	√
mandible hypoplasia	√
vision/eye	√
exophthalmos	√
eyelid hypoplasia	√

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

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	6 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 Gcn1 Mutation: 136 strains or lines available

References

• Original: J:287528 Yamazaki H, et al., Ribosome binding protein GCN1 regulates the cell cycle and cell proliferation and is essential for the embryonic development of mice. PLoS Genet. 2020 Apr;16(4):e1008693
• All: 1 reference(s)