Phenotypes associated with this allele

• Allele Symbol: Ctcf^em1Hyao
• Allele Name: endonuclease-mediated mutation 1, Hongjie Yao
• Allele ID: MGI:7664135
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctcf^em1Hyao/Ctcf^em1Hyao	C57BL/6N-Ctcf^em1Hyao	MGI:7664167
ht2	Ctcf^em1Hyao/Ctcf^+	C57BL/6N-Ctcf^em1Hyao	MGI:7664166

Genotype
MGI:7664167

hm1

• Allelic Composition: Ctcf^em1Hyao/Ctcf^em1Hyao
• Genetic Background: C57BL/6N-Ctcf^em1Hyao

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

cardiovascular system

abnormal ventricle myocardium morphology ( J:350502 )

• noncompaction of ventricular myocardium in E18.5 embryos

myocardial ventricular hypertrabeculation ( J:350502 )

• noncompaction of ventricular myocardium in E18.5 embryos

• trabecular hyperplasia in E18.5 embryos

thick myocardium ( J:350502 )

• noncompaction of ventricular myocardium in E18.5 embryos

thin ventricular wall ( J:350502 )

• in E18.5 embryos

embryo

decreased embryo weight ( J:350502 )

• significantly smaller E18.5 embryos

growth/size/body

decreased embryo weight ( J:350502 )

• significantly smaller E18.5 embryos

mortality/aging

neonatal lethality, complete penetrance ( J:350502 )

• mice die from respiratory distress within 30 minutes after birth

muscle

abnormal ventricle myocardium morphology ( J:350502 )

• noncompaction of ventricular myocardium in E18.5 embryos

myocardial ventricular hypertrabeculation ( J:350502 )

• noncompaction of ventricular myocardium in E18.5 embryos

• trabecular hyperplasia in E18.5 embryos

thick myocardium ( J:350502 )

• noncompaction of ventricular myocardium in E18.5 embryos

nervous system

abnormal neurite morphology ( J:350502 )

• fewer and shorter neurites in E18.5 embryo primary neurons in vitro

abnormal nervous system electrophysiology ( J:350502 )

• reduced electrical activity in E18.5 embryo primary neurons in vitro: reduced numbers of spikes, bursts and network bursts, along with decreases in mean firing rate and synchronization index

respiratory system

abnormal lung interstitium morphology ( J:350502 )

• thicker in E18.5 embryos and P0 mice

atelectasis ( J:350502 )

• non-inflated alveoli in E18.5 embryos and P0 mice

Genotype
MGI:7664166

ht2

• Allelic Composition: Ctcf^em1Hyao/Ctcf⁺
• Genetic Background: C57BL/6N-Ctcf^em1Hyao

behavior/neurological

behavior/neurological phenotype ( J:350502 )

N • normal behavior in open field, novel object recognition, three chamber, elevated plus maze, and Morris water maze tests

impaired exercise endurance ( J:350502 )

• reduced endurance in rotarod test

growth/size/body

thin body ( J:350502 )

• lean body at age 1 month

homeostasis/metabolism

impaired exercise endurance ( J:350502 )

• reduced endurance in rotarod test

decreased growth hormone level ( J:350502 )

mortality/aging

mortality/aging ( J:350502 )

N • normal lifespan