Phenotypes associated with this allele

• Allele Symbol: Chd8^tm2.1Kei
• Allele Name: targeted mutation 2.1, Keiichi I Nakayama
• Allele ID: MGI:6144040
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chd8^tm2.1Kei/Chd8^tm2.1Kei	involves: 129P2/OlaHsd * C57BL/6J	MGI:6189105
ht2	Chd8^tm2.1Kei/Chd8^+	B6J.129P2-Chd8^tm2.1Kei	MGI:6189103

Genotype
MGI:6189105

hm1

• Allelic Composition: Chd8^tm2.1Kei/Chd8^tm2.1Kei
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:235128 )

• while embryos are recovered up to E11.5, no embryos are recovered after E12.5

Genotype
MGI:6189103

ht2

• Allelic Composition: Chd8^tm2.1Kei/Chd8⁺
• Genetic Background: B6J.129P2-Chd8^tm2.1Kei

behavior/neurological

impaired learning ( J:235128 )

• in the T-maze left-right discrimination test, mice show reduced percentage of correct responses after directional reversal compared to controls, suggesting that mice exhibit increased persistence

• however, mice show normal memory in the T-maze forced-alternation test

increased anxiety-related response ( J:235128 )

• 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

decreased startle reflex ( J:235128 )

• mice show a lower acoustic startle response

abnormal social investigation ( J:235128 )

• 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

• mice show a reduction in contact time between familiar and stranger mice in the sociability and social-novelty preference test

digestive/alimentary system

decreased intestine length ( J:235128 )

• mice have shorter intestine

abnormal intestinal transit time ( J:235128 )

• mice tend to show slower intestinal transit

growth/size/body

megacephaly ( J:235128 )

• brain weight and volume are increased indicating macrocephaly

nervous system

increased brain weight ( J:235128 )

• brain weight at E18.5 and in adulthood is increased

abnormal nervous system development ( J:235128 )

• expression analysis indicates a delay in neurodevelopment in fetal stages

increased prepulse inhibition ( J:235128 )

• 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