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Symbol
Name
ID 		Chd7
chromodomain helicase DNA binding protein 7
MGI:2444748
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Dandy-Walker malformation
Microcephaly
Facial palsy
Anosmia
Dysphagia
Decreased response to growth hormone stimulation test
Anterior hypopituitarism
Gonadotropin deficiency
Abnormal cranial nerve morphology
Aqueductal stenosis
Arrhinencephaly
Aplasia/Hypoplasia of the cerebellum
Holoprosencephaly
Cranial nerve paralysis
Autism
Compulsive behaviors
Attention deficit hyperactivity disorder
Self-mutilation
Intellectual disability
Global developmental delay
Motor delay
Disease(s) Associated with CHD7
CHARGE syndrome
hypogonadotropic hypogonadism 5 with or without anosmia

Mouse Phenotypes
nervous system phenotype
decreased oligodendrocyte progenitor number
abnormal oligodendrocyte apoptosis
increased neuron apoptosis
abnormal neuron differentiation
premature neuronal precursor differentiation
decreased cerebellar granule cell precursor proliferation
abnormal neuronal precursor proliferation
abnormal olfactory sensory neuron morphology
decreased olfactory sensory neuron number
abnormal embryonic neuroepithelium morphology
decreased embryonic neuroepithelium thickness
Rathke's pouch hypoplasia
abnormal neurohypophysis median eminence morphology
abnormal pituitary gland physiology
abnormal cochlear hair cell morphology
increased cochlear hair cell number
increased cochlear inner hair cell number
increased cochlear outer hair cell number
cochlear inner hair cell degeneration
cochlear outer hair cell degeneration
absent cochlear microphonics
decreased cochlear nerve compound action potential
abnormal brain development
abnormal telencephalon development
abnormal cerebellar foliation
hydrocephaly
decreased brain size
enlarged third ventricle
dilated lateral ventricle
dilated third ventricle
abnormal corpus callosum morphology
decreased brain internal capsule size
increased habenula size
abnormal retrosplenial granular cortex morphology
abnormal hippocampus morphology
small hippocampus
absent hippocampus
abnormal telencephalon morphology
abnormal cerebral cortex morphology
abnormal neocortex morphology
abnormal frontal lobe morphology
abnormal parietal lobe morphology
abnormal olfactory lobe morphology
abnormal olfactory bulb morphology
absent olfactory bulb
small olfactory bulb
olfactory bulb hypoplasia
abnormal cerebellum morphology
abnormal cerebellar hemisphere morphology
abnormal cerebellum hemisphere lobule morphology
abnormal lobule simplex morphology
abnormal Purkinje cell morphology
decreased Purkinje cell number
decreased cerebellar granule cell number
ectopic cerebellar granule cells
abnormal cerebellum vermis lobule IV morphology
abnormal cerebellum vermis lobule V morphology
abnormal cerebellum fissure morphology
abnormal cerebellum vermis lobule morphology
abnormal cerebellum vermis lobule IX morphology
abnormal cerebellum vermis lobule VIII morphology
cerebellum vermis hypoplasia
small cerebellum
cerebellum hypoplasia
abnormal CNS glial cell morphology
decreased oligodendrocyte number
abnormal innervation
abnormal sensory neuron innervation pattern
abnormal neuronal stem cell morphology
abnormal vestibulocochlear ganglion morphology
increased mammillothalamic tract size
decreased myelin sheath thickness
abnormal neuron number
abnormal neuronal precursor cell number
decreased neuronal precursor cell number
increased neuronal precursor cell number
decreased neuron number
decreased retina cone cell number
increased neuron number
short retina cone cell outer segment
short retina rod cell outer segment
neuron degeneration
abnormal trigeminal ganglion morphology
abnormal cranial nerve morphology
fusion of glossopharyngeal and vagus nerve
abnormal vagus nerve morphology
abnormal vestibular nerve morphology
abnormal oligodendrocyte physiology
abnormal hypothalamus physiology
dysmyelination
hypermyelination
abnormal neuron physiology
abnormal olfactory sensory neuron physiology
increased neuronal stem cell self-renewal
Availability Mouse Genotype
Chd7Gt(S20-7E1)Sor/Chd7Gt(S20-7E1)Sor
Chd7Coa1/Chd7+
Chd7Edy/Chd7+
Chd7Flo/Chd7+
Chd7Gt(S20-7E1)Sor/Chd7+
Chd7Gt(XK403)Byg/Chd7+ *
Chd7Ome/Chd7+
Chd7tm2a(EUCOMM)Wtsi/Chd7+
Chd7Whi/Chd7+
Chd7tm1.1Dmm/Chd7tm1.1Dmm
Olig1tm1(cre)Rth/Olig1+  (conditional)
Chd7tm1.1Dmm/Chd7tm1.1Dmm
Tg(Pdgfra-cre/ERT)467Dbe/0  (conditional)
Chd7tm1.1Dmm/Chd7tm1.1Dmm
Tg(Pax2-cre)1Akg/0  (conditional)
Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
Mesp1tm2(cre)Ysa/Mesp1+  (conditional)
Chd7tm2c(EUCOMM)Wtsi/Chd7tm2c(EUCOMM)Wtsi
Tg(Atoh1-cre)1Bfri/0  (conditional)
Chd7tm2c(EUCOMM)Wtsi/Chd7tm2c(EUCOMM)Wtsi
Ptf1atm1.1(cre)Cvw/Ptf1a+  (conditional)		 *
Chd7tm2c(EUCOMM)Wtsi/Chd7tm2c(EUCOMM)Wtsi
Tg(Nes-cre)1Kln/0  (conditional)
Chd7tm2c(EUCOMM)Wtsi/Chd7tm2c(EUCOMM)Wtsi
Slc1a3tm1(cre/ERT2)Mgoe/Slc1a3+  (conditional)
Chd7tm2c(EUCOMM)Wtsi/Chd7tm2c(EUCOMM)Wtsi
Tg(Neurod1-cre)RZ24Gsat/0  (conditional)
Chd7Gt(S20-7E1)Sor/Chd7tm1.1Dmm
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Chd7tm1.1Dmm/Chd7+
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Chd7tm2c(EUCOMM)Wtsi/Chd7+
Tg(Atoh1-cre)1Bfri/0  (conditional)
Chd7tm2c(EUCOMM)Wtsi/Chd7+
Tg(Neurod1-cre)RZ24Gsat/0  (conditional)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory