About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Chd7em2Clwa
endonuclease-mediated mutation 2, Cheryl Lyn Walker
MGI:8217194
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Chd7em2Clwa/Chd7em2Clwa C57BL/6-Chd7em2Clwa MGI:8240105
ht2
 		Chd7em2Clwa/Chd7+ C57BL/6-Chd7em2Clwa MGI:8240108
ht3
 		Chd7em1Clwa/Chd7em2Clwa C57BL/6-Chd7em1Clwa Chd7em2Clwa MGI:8240110


Genotype
MGI:8240105
hm1
Allelic
Composition		 Chd7em2Clwa/Chd7em2Clwa
Genetic
Background		 C57BL/6-Chd7em2Clwa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7em2Clwa mutation (0 available); any Chd7 mutation (134 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
behavior/neurological phenotype ( J:367537 )
N
• mice do not exhibit circling

cardiovascular system
abnormal heart septum morphology ( J:367537 )
• embryos with enlarged ventricular chambers show thickened ventricular septa
• however, no ventricular septal defect is seen
cardiac hypertrophy ( J:367537 )
• 3 of 7 embryos show reduced ventricular chamber volume indicating a hypertrophic cardiomyopathy-like phenotype
abnormal heart ventricle morphology ( J:367537 )
• 3 embryos show enlarged volume of chambers (dilated cardiomyopathy-like), 3 embryos show reduced volume of chamber (hypertrophic cardiomyocyte-like) and 1 embryo shows no difference from wild-type
thick ventricular wall ( J:367537 )
• embryos with enlarged ventricular chambers show thickened ventricular walls
dilated heart ventricle ( J:367537 )
• 3 of 7 embryos show enlarged heart ventricular chamber volume
dilated cardiomyopathy ( J:367537 )
• 3 of 7 embryos show enlarged volume of chambers indicating a dilated cardiomyopathy-like phenotype
• embryos with enlarged ventricular chambers show thickened ventricular walls and septa, characteristic of dilated cardiomyopathy

growth/size/body
cardiac hypertrophy ( J:367537 )
• 3 of 7 embryos show reduced ventricular chamber volume indicating a hypertrophic cardiomyopathy-like phenotype
enlarged kidney ( J:367537 )
• seen in E18.5 embryos

muscle
dilated cardiomyopathy ( J:367537 )
• 3 of 7 embryos show enlarged volume of chambers 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

renal/urinary system
enlarged kidney ( J:367537 )
• seen in E18.5 embryos

vision/eye
vision/eye phenotype ( J:367537 )
N
• mice do not exhibit grossly observable eye defects




Genotype
MGI:8240108
ht2
Allelic
Composition		 Chd7em2Clwa/Chd7+
Genetic
Background		 C57BL/6-Chd7em2Clwa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7em2Clwa mutation (0 available); any Chd7 mutation (134 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
behavior/neurological phenotype ( J:367537 )
N
• mice do not exhibit circling

cardiovascular system
cardiac hypertrophy ( J:367537 )
• all embryos show reduced ventricular chamber volume indicating a hypertrophic cardiomyopathy-like phenotype
abnormal heart ventricle morphology ( J:367537 )
• all embryos show reduced volume of chamber, consistent with a hypertrophic cardiomyocyte-like phenotype

growth/size/body
cardiac hypertrophy ( J:367537 )
• all embryos show reduced ventricular chamber volume indicating a hypertrophic cardiomyopathy-like phenotype

nervous system
small lateral ventricles ( J:367537 )
• brain shows reduced lateral ventricle size at E18.5

vision/eye
vision/eye phenotype ( J:367537 )
N
• mice exhibit normal eyes




Genotype
MGI:8240110
ht3
Allelic
Composition		 Chd7em1Clwa/Chd7em2Clwa
Genetic
Background		 C57BL/6-Chd7em1Clwa Chd7em2Clwa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7em1Clwa mutation (0 available); any Chd7 mutation (134 available)
Chd7em2Clwa mutation (0 available); any Chd7 mutation (134 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
08/05/2025
MGI 6.24 		The Jackson Laboratory