Phenotypes Associated with This Genotype

Genotype
MGI:7493334

• Allelic Composition: Chd7^Trooper/Chd7⁺
• Genetic Background: BALB/c-Chd7^Trooper

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

behavior/neurological

head bobbing ( J:262283 )

head tilt ( J:262283 )

circling ( J:262283 )

• in 4% of mice

immune system

blepharitis ( J:262283 )

• blepharoconjunctivitis in 12% (6 of 52) of mice

conjunctivitis ( J:262283 )

• blepharoconjunctivitis in 12% (6 of 52) of mice

hearing/vestibular/ear

abnormal stapes footplate morphology ( J:262283 )

• in non-circling mice, the stapes footplate is deformed and does not contact the oval window

• in circling mice, the footplate fuses to the oval window

small stapes ( J:262283 )

• small, rounded shape in mice showing circling behavior

abnormal semicircular canal morphology ( J:262283 )

• intersection of the posterior and superior canals is enlarged and misshapen

abnormal lateral semicircular canal morphology ( J:262283 )

• partial development

decreased posterior semicircular canal size ( J:262283 )

• variable levels of hypoplasia

decreased superior semicircular canal size ( J:262283 )

• variable levels of hypoplasia

increased or absent threshold for auditory brainstem response ( J:262283 )

• thresholds are elevated between 4 and 16 kHz, with the greatest shifts seen at lower frequencies

• average threshold shifts of 35-40 dB SPL at 4 and 8 kHz

• average threshold shifts of 20 dB SPL at 16 kHz

vision/eye

blepharitis ( J:262283 )

• blepharoconjunctivitis in 12% (6 of 52) of mice

conjunctivitis ( J:262283 )

• blepharoconjunctivitis in 12% (6 of 52) of mice

growth/size/body

decreased body weight ( J:262283 )

craniofacial

abnormal stapes footplate morphology ( J:262283 )

• in non-circling mice, the stapes footplate is deformed and does not contact the oval window

• in circling mice, the footplate fuses to the oval window

small stapes ( J:262283 )

• small, rounded shape in mice showing circling behavior

skeleton

abnormal stapes footplate morphology ( J:262283 )

• in non-circling mice, the stapes footplate is deformed and does not contact the oval window

• in circling mice, the footplate fuses to the oval window

small stapes ( J:262283 )

• small, rounded shape in mice showing circling behavior

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:262283