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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Chd8tm1Kei
targeted mutation 1, Keiichi I Nakayama
MGI:3530648
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Chd8tm1Kei/Chd8tm1Kei involves: C57BL/6 MGI:3531401
ht2
Chd8tm1Kei/Chd8+ Not Specified MGI:6189107


Genotype
MGI:3531401
hm1
Allelic
Composition
Chd8tm1Kei/Chd8tm1Kei
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd8tm1Kei mutation (1 available); any Chd8 mutation (67 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous null embryos were found at E8.5 but most were resorbed by E9.5

embryo
• cells with condensed nuclei and pronounced cell apoptosis were apparent in the ectoderm-like layer of E7.5 homozygous null embryos
• however, increased apoptosis was not observed at E6
• homozygous null embryos appeared retarded as early as E5.5 and almost arrested after E6.5
• formation of the mesoderm was not observed at E7.5
• embryos developed into an egg cylinder consisting of only the ectoderm and visceral endoderm
• formation of the primitive streak was not observed at E7.5
• the inner cell mass of E3.5 null embryos developed poorly and formed colonies incompletely after 4-5 days in culture
• however, blastocysts grown in culture produced normal trophoblast giant cells
• the inner cell mass of E3.5 null embryos collapsed and disappeared after 6 days in culture

cellular
• cells with condensed nuclei and pronounced cell apoptosis were apparent in the ectoderm-like layer of E7.5 homozygous null embryos
• however, increased apoptosis was not observed at E6




Genotype
MGI:6189107
ht2
Allelic
Composition
Chd8tm1Kei/Chd8+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd8tm1Kei mutation (1 available); any Chd8 mutation (67 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice spend less time in the light chamber for the light-dark transition test, in the open arms for the elevated plus-maze test, and in the center of the open-field indicating increased anxiety
• mice show a lower acoustic startle response
• mice show reduced number of social contacts in the social-interaction test but an increase in the duration per contact, resulting in an increase in total contact time
• however, the total duration of active contacts such as sniffing and following behavior is reduced

digestive/alimentary system
• mice have shorter intestine
• mice tend to show slower intestinal transit

growth/size/body
• brain weight and volume are increased indicating macrocephaly

nervous system
• brain weight is increased at E18.5
• mice exhibit increased prepulse inhibition for 74- or 78-dB prepulses before a 120-dB startle stimulus

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:235128





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)
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last database update
11/16/2021
MGI 6.17
The Jackson Laboratory