Phenotypes Associated with This Genotype

Genotype
MGI:5437367

• Allelic Composition: Chd7^Ome/Chd7⁺
• Genetic Background: involves: BALB/cByJ * C57BL/6J

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

Ear abnormalities in Chd7^Ome/Chd7⁺ mice

reproductive system

reduced male fertility ( J:187200 )

♂ • slight

cellular

increased middle ear goblet cell number ( J:187200 )

• mice exhibit increased goblet cell density in the middle ear compared with wild-type mice

hearing/vestibular/ear

abnormal stapes footplate morphology ( J:187200 )

• the footplate is thinner and partially fused with surrounding bones

abnormal stapes head morphology ( J:187200 )

• the head of the stapes is shifted toward the anterior crus

small stapes obturator foramen ( J:187200 )

• obturator foramen is smaller due to inward growth of the footplate and anterior crus

abnormal auditory tube morphology ( J:187200 )

• greater Eustachian tube angle

abnormal middle ear epithelium morphology ( J:187200 )

• mice exhibit decreased epithelial cilia density in the middle ear compared with wild-type mice

increased middle ear goblet cell number ( J:187200 )

• mice exhibit increased goblet cell density in the middle ear compared with wild-type mice

absent cochlear microphonics ( J:187200 )

increased or absent threshold for auditory brainstem response ( J:187200 )

• mean ABR thresholds in each age-group from P21 to P120 are significantly higher than those of wild-type mice at all the frequencies tested

abnormal distortion product otoacoustic emission ( J:187200 )

• mutant mice have amplitudes below zero at every frequency tested from P21 to P120, substantially lower than those in wild-type mice

impaired hearing ( J:187200 )

increased susceptibility to otitis media ( J:187200 )

• as early as P11, most mice exhibit otitis media with effusion, thickened epithelia, a dilated periosteum and inflammatory cells, increased goblet cells, cilia loss in the middle ear and Eustachian without bacterial cause compared with wild-type mice

craniofacial

increased cranium height ( J:187200 )

• larger skull height/skull length ratio

abnormal stapes footplate morphology ( J:187200 )

• the footplate is thinner and partially fused with surrounding bones

abnormal stapes head morphology ( J:187200 )

• the head of the stapes is shifted toward the anterior crus

small stapes obturator foramen ( J:187200 )

• obturator foramen is smaller due to inward growth of the footplate and anterior crus

long snout ( J:187200 )

• larger nose bone length to skull length ratio

growth/size/body

long snout ( J:187200 )

• larger nose bone length to skull length ratio

decreased body size ( J:187200 )

• at weaning

decreased body weight ( J:187200 )

• at weaning

postnatal growth retardation ( J:187200 )

• mild

behavior/neurological

impaired swimming ( J:187200 )

circling ( J:187200 )

immune system

increased susceptibility to otitis media ( J:187200 )

• as early as P11, most mice exhibit otitis media with effusion, thickened epithelia, a dilated periosteum and inflammatory cells, increased goblet cells, cilia loss in the middle ear and Eustachian without bacterial cause compared with wild-type mice

nervous system

absent cochlear microphonics ( J:187200 )

skeleton

increased cranium height ( J:187200 )

• larger skull height/skull length ratio

abnormal stapes footplate morphology ( J:187200 )

• the footplate is thinner and partially fused with surrounding bones

abnormal stapes head morphology ( J:187200 )

• the head of the stapes is shifted toward the anterior crus

small stapes obturator foramen ( J:187200 )

• obturator foramen is smaller due to inward growth of the footplate and anterior crus

increased periosteum thickness ( J:187200 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:187200