Phenotypes Associated with This Genotype

Genotype
MGI:7492422

• Allelic Composition: Chd7^{tm2a(EUCOMM)Wtsi}/Chd7⁺
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6N

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

nervous system

abnormal corpus callosum morphology ( J:330596 )

• absence of midline crossing resulting in dysgenesis of the corpus callosum in 3 of 3 mice

decreased brain internal capsule size ( J:330596 )

• 32% decrease in size

increased habenula size ( J:330596 )

• 41% increase in size

abnormal retrosplenial granular cortex morphology ( J:330596 )

• abnormally shaped

abnormal hippocampus morphology ( J:330596 )

• abnormally shaped

increased mammillothalamic tract size ( J:330596 )

• increase of 100% on average on both sides of the brain

behavior/neurological

behavior/neurological phenotype ( J:330596 )

N • no increase in locomotor activity during a modified SHIRPA or in the open field unlike mice heterozygous for Chd7^Whi

N • no change in heat sensitivity compared to controls

abnormal response to stress-induced hyperthermia ( J:330596 )

• show a trend toward reduced response

decreased grip strength ( J:330596 )

• less severe than in mice heterozygous for Chd7^Whi

hematopoietic system

decreased hematocrit ( J:330596 )

decreased hemoglobin content ( J:330596 )

decreased red blood cell distribution width ( J:330596 )

increased NK T cell number ( J:330596 )

decreased leukocyte cell number ( J:330596 )

decreased monocyte cell number ( J:330596 )

• percentage tends to be decreased but is not statistically significant

vision/eye

abnormal pupil morphology ( J:330596 )

• abnormal pupil position or shape in 5 of 14 mice

cataract ( J:330596 )

• opaque lenses in mice with normal pupils only

homeostasis/metabolism

abnormal response to stress-induced hyperthermia ( J:330596 )

• show a trend toward reduced response

increased blood uric acid level ( J:330596 )

abnormal circulating lipoprotein level ( J:330596 )

• decreased LDL levels

abnormal circulating enzyme level ( J:330596 )

decreased circulating alanine transaminase level ( J:330596 )

increased circulating alkaline phosphatase level ( J:330596 )

decreased circulating total protein level ( J:330596 )

growth/size/body

decreased lean body mass ( J:330596 )

• decreased by 16%

decreased body weight ( J:330596 )

• decreased weight from early life to adulthood

decreased body length ( J:330596 )

• at 14 weeks of age

skeleton

decreased bone mineral content ( J:330596 )

• marginally reduced (15%)

immune system

increased NK T cell number ( J:330596 )

decreased leukocyte cell number ( J:330596 )

decreased monocyte cell number ( J:330596 )

• percentage tends to be decreased but is not statistically significant

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:330596