Phenotypes associated with this allele

• Allele Symbol: Gcn1^em2Itohk
• Allele Name: endonuclease-mediated mutation 2, Ken Itoh
• Allele ID: MGI:6436701
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gcn1^em2Itohk/Gcn1^em2Itohk	C57BL/6-Gcn1^em2Itohk	MGI:6436706

Genotype
MGI:6436706

hm1

• Allelic Composition: Gcn1^em2Itohk/Gcn1^em2Itohk
• Genetic Background: C57BL/6-Gcn1^em2Itohk

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:287528 )

• E18.5 embryos die within 20 min after delivery by cesarean section

• following administration of progesterone to pregnant mothers to prolong the gestation period, E20.5 embryos with abnormal appearance die within 20 min after delivery by cesarean section whereas embryos with normal appearance survive for at least 4 h

growth/size/body

embryonic growth retardation ( J:287528 )

decreased embryo size ( J:287528 )

• embryos are smaller than heterozygous and wild-type control embryos at E9.5

abnormal head morphology ( J:287528 )

• some embryos exhibit abnormal head morphology or an anencephaly-like phenotype at E18.5

decreased fetal size ( J:287528 )

• embryos are smaller than heterozygous and wild-type control embryos at E14.5

decreased fetal weight ( J:287528 )

• embryos show a significant decrease in body weight after E17.5

• following administration of progesterone to pregnant mothers to prolong the gestation period, body weight is gradually increased but still lower than that in controls at E19.5 and E20.5

fetal growth retardation ( J:287528 )

embryo

embryonic growth retardation ( J:287528 )

decreased embryo size ( J:287528 )

• embryos are smaller than heterozygous and wild-type control embryos at E9.5

respiratory system

atelectasis ( J:287528 )

• lungs from E18.5 embryos sink in PBS and exhibit alveolar collapse due to lack of air inflation; expression of Aqp5 (alveolar type I marker) and Sftpc (alveolar type II marker) is significantly lower than that in E18.5 control embryos

• however, lungs from E20.5 embryos appear similar to those of control mice, and the gene expression level of alveolar markers at E20.5 is comparable to that of control embryos at E18.5

respiratory failure ( J:287528 )

• embryos fail to respire at E18.5 (i.e. one day before birth) after cesarean section

limbs/digits/tail

delayed limb development ( J:287528 )

• limb development is delayed at E14.5

craniofacial

mandible hypoplasia ( J:287528 )

• some embryos exhibit mandible hypoplasia at E20.5

nervous system

anencephaly ( J:287528 )

• some embryos exhibit an anencephaly-like phenotype at E14.5 or E18.5

skeleton

mandible hypoplasia ( J:287528 )

• some embryos exhibit mandible hypoplasia at E20.5

vision/eye

exophthalmos ( J:287528 )

• some embryos exhibit exophthalmos/hypoplasia of the eyelid at E20.5

eyelid hypoplasia ( J:287528 )

• some embryos exhibit exophthalmos/hypoplasia of the eyelid at E20.5

cellular

abnormal cell morphology ( J:287528 )

• primary mouse embryonic fibroblasts (MEFs) are significantly larger in size than wild-type MEFs

• however, beta-galactosidase staining indicated that MEF enlargement is not due to cellular senescence

abnormal cell cycle checkpoint function ( J:287528 )

• MEFs appear to be delayed at the G1/S transition and exhibit G2/M arrest accompanying a decrease in Cdk1 and Cyclin B1

increased mitotic index ( J:287528 )

• primary MEFs show a significantly higher proportion of cells in the G2/M phase than wild-type MEFs

abnormal fibroblast physiology ( J:287528 )

• MEFs show reduced GCN2-mediated eIF2alpha phosphorylation in response to amino acid starvation (AAS) or UV radiation

decreased fibroblast proliferation ( J:287528 )

• upon culture, both primary and immortalized MEFs show a significant reduction in growth capacity relative to wild-type MEFs

• primary MEFs exhibit significantly reduced BrdU incorporation indicating decreased cell proliferation relative to wild-type MEFs

• however, no differences in apoptosis are observed