Phenotypes associated with this allele

• Allele Symbol: Chd7^em1Clwa
• Allele Name: endonuclease-mediated mutation 1, Cheryl Lyn Walker
• Allele ID: MGI:8217193
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chd7^em1Clwa/Chd7^em1Clwa	C57BL/6-Chd7^em1Clwa	MGI:8240086
ht2	Chd7^em1Clwa/Chd7^+	C57BL/6-Chd7^em1Clwa	MGI:8240098
ht3	Chd7^em1Clwa/Chd7^em2Clwa	C57BL/6-Chd7^em1Clwa Chd7^em2Clwa	MGI:8240110

Genotype
MGI:8240086

hm1

• Allelic Composition: Chd7^em1Clwa/Chd7^em1Clwa
• Genetic Background: C57BL/6-Chd7^em1Clwa

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

mortality/aging

prenatal lethality, complete penetrance ( J:367537 )

• no homozygotes are obtained

Genotype
MGI:8240098

ht2

• Allelic Composition: Chd7^em1Clwa/Chd7⁺
• Genetic Background: C57BL/6-Chd7^em1Clwa

behavior/neurological

circling ( J:367537 )

• all mice exhibit circling behavior indicative of inner ear defects

cardiovascular system

abnormal heart septum morphology ( J:367537 )

• embryos with enlarged ventricular chambers show thickened ventricular septa

cardiac hypertrophy ( J:367537 )

• 1 of 5 embryos show reduced ventricular chamber volume indicating a hypertrophic cardiomyocyte-like phenotype

abnormal heart ventricle morphology ( J:367537 )

• embryos exhibit both enlarged and reduced heart ventricular chambers; 3 of 5 embryos show enlarged volume of chambers (dilated cardiomyopathy-like phenotype) and 1 of 5 embryos show reduced volume of chambers (hypertrophic cardiomyopathy-like phenotype)

ventricular septal defect ( J:367537 )

• two mice show a ventricular septal defect characterized by a discontinuous gap in the ventricular septum

thick ventricular wall ( J:367537 )

• embryos with enlarged ventricular chambers show thickened ventricular walls

thin ventricular wall ( J:367537 )

• some embryos show thinning of the ventricular wall

dilated heart ventricle ( J:367537 )

• some embryos exhibit enlarged heart ventricular chambers

• mice with the ventricular septal defect show enlarged ventricular chambers

dilated cardiomyopathy ( J:367537 )

• 3 of 5 embryos show enlarged ventricular chamber volume indicating a dilated cardiomyopathy-like phenotype

• embryos with enlarged ventricular chambers show thickened ventricular walls and septa, characteristic of dilated cardiomyopathy

craniofacial

round head ( J:367537 )

• 1 of 15 mice show a round head consistent with hydrocephalus

growth/size/body

cardiac hypertrophy ( J:367537 )

• 1 of 5 embryos show reduced ventricular chamber volume indicating a hypertrophic cardiomyocyte-like phenotype

round head ( J:367537 )

• 1 of 15 mice show a round head consistent with hydrocephalus

muscle

dilated cardiomyopathy ( J:367537 )

• 3 of 5 embryos show enlarged ventricular chamber volume indicating a dilated cardiomyopathy-like phenotype

• embryos with enlarged ventricular chambers show thickened ventricular walls and septa, characteristic of dilated cardiomyopathy

nervous system

small lateral ventricles ( J:367537 )

• brain shows reduced lateral ventricle size at E18.5

vision/eye

unilateral microphthalmia ( J:367537 )

• 13 of 14 mice show unilateral microphthalmia

eyelids open at birth ( J:367537 )

• mice exhibit high penetrance of unfused eyelids

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:367537

Genotype
MGI:8240110

ht3

• Allelic Composition: Chd7^em1Clwa/Chd7^em2Clwa
• Genetic Background: C57BL/6-Chd7^em1Clwa Chd7^em2Clwa

cardiovascular system

cardiac hypertrophy ( J:367537 )

• 5 of 6 E18.5 embryos show reduced ventricular chamber volume indicating a hypertropic cardiomyocyte-like phenotype

abnormal heart ventricle morphology ( J:367537 )

• 5 embryos show reduced ventricular chamber volume (hypertrophic cardiomyopathy-like phenotype) while 1 shows no difference from wild-type mice

• however, no ventricular septal defect is seen

thick ventricular wall ( J:367537 )

• seen in E18.5 embryos

craniofacial

round head ( J:367537 )

• one mouse shows a round head

growth/size/body

cardiac hypertrophy ( J:367537 )

• 5 of 6 E18.5 embryos show reduced ventricular chamber volume indicating a hypertropic cardiomyocyte-like phenotype

round head ( J:367537 )

• one mouse shows a round head

mortality/aging

postnatal lethality, complete penetrance ( J:367537 )

• prenatal or immediate postnatal lethality, with none surviving beyond P2

prenatal lethality, incomplete penetrance ( J:367537 )

• prenatal or immediate postnatal lethality, with none surviving beyond P2

nervous system

small lateral ventricles ( J:367537 )

• brain shows reduced lateral ventricle size at E18.5

renal/urinary system

hydronephrosis ( J:367537 )

• seen in E18.5 embryos

vision/eye

unilateral microphthalmia ( J:367537 )

• 5 of 5 mice show unilateral microphthalmia

anophthalmia ( J:367537 )

• 2 of 5 mice show anophthalmia