Phenotypes associated with this allele

• Allele Symbol: Chd7^Coa1
• Allele Name: circling and ocular abnormality 1
• Allele ID: MGI:5436059
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chd7^Coa1/Chd7^Coa1	involves: C57BL/6J	MGI:5436061
ht2	Chd7^Coa1/Chd7^+	involves: C57BL/6J	MGI:5436060

Genotype
MGI:5436061

hm1

• Allelic Composition: Chd7^Coa1/Chd7^Coa1
• Genetic Background: involves: C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:187010 )

• only survive to E10.5

Genotype
MGI:5436060

ht2

• Allelic Composition: Chd7^Coa1/Chd7⁺
• Genetic Background: involves: C57BL/6J

mortality/aging

premature death ( J:187010 )

• only 55% survive to maturity

preweaning lethality, incomplete penetrance ( J:187010 )

lethality throughout fetal growth and development, incomplete penetrance ( J:187010 )

• loss of mice after E15.5

growth/size/body

decreased body size ( J:187010 )

• slimmer

decreased body weight ( J:187010 )

postnatal growth retardation ( J:187010 )

behavior/neurological

head bobbing ( J:187010 )

hyperactivity ( J:187010 )

circling ( J:187010 )

hearing/vestibular/ear

impaired hearing ( J:187010 )

• hearing loss

nervous system

abnormal embryonic neuroepithelium morphology ( J:187010 )

• shorter invaginated cortical neuroepithelium at E12.5 in the dorsal midline region

abnormal brain development ( J:187010 )

• wider gap in the dorsal midline at E13.5

abnormal telencephalon development ( J:187010 )

• decrease in apoptosis in the dorsomedial region at E10.5 and inadequate midline invagination

• however, proliferation is similar to controls

hydrocephaly ( J:187010 )

• with variable severity

dilated third ventricle ( J:187010 )

• slightly expanded at E12.5

• expanded at E13.5, E15.5 and E17.5

• remarkably expanded in pups

abnormal telencephalon morphology ( J:187010 )

• detectable at E12.5

dilated lateral ventricle ( J:187010 )

• expanded at E15.5, E17.5 and in pups

abnormal corpus callosum morphology ( J:187010 )

• axons fail to cross the midline at E17.5

abnormal hippocampus morphology ( J:187010 )

• axons fail to cross the midline at E17.5

small hippocampus ( J:187010 )

absent hippocampus ( J:187010 )

• agenesis at E17.5

abnormal neocortex morphology ( J:187010 )

• thinner

abnormal frontal lobe morphology ( J:187010 )

• thin frontal cortex with variable severity

abnormal parietal lobe morphology ( J:187010 )

• thin parietal cortex with variable severity

abnormal olfactory lobe morphology ( J:187010 )

• arhinencephaly with variable severity

absent olfactory bulb ( J:187010 )

• no visible olfactory bulb in severely affected mice

small olfactory bulb ( J:187010 )

• in mice with a mild phenotype

reproductive system

reduced fertility ( J:187010 )

vision/eye

abnormal eye morphology ( J:187010 )

• eye defects

embryo

abnormal embryonic neuroepithelium morphology ( J:187010 )

• shorter invaginated cortical neuroepithelium at E12.5 in the dorsal midline region