All Phenotypes Chd8<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Chd8^tm2.1Kei/Chd8⁺	B6J.129P2-Chd8^tm2.1Kei	MGI:6189103
ht2	Chd8^em1(IMPC)Mbp/Chd8⁺	C57BL/6N-Chd8^em1(IMPC)Mbp/MbpMmucd	MGI:6408295
ht3	Chd8^tm1Kei/Chd8⁺	involves: 129P2/OlaHsd * C57BL/6J	MGI:7413047
ht4	Chd8^tm1.1Csbd/Chd8⁺	involves: C57BL/6J	MGI:6390918

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd8^tm2.1Kei mutation (1 available); any Chd8 mutation (108 available)

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

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

Allelic Composition	Chd8^em1(IMPC)Mbp/Chd8⁺
Genetic Background	C57BL/6N-Chd8^em1(IMPC)Mbp/MbpMmucd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd8^em1(IMPC)Mbp mutation (1 available); any Chd8 mutation (108 available)

Data Sources

IMPC Data for Chd8

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

behavior/neurological

decreased locomotor activity ( J:211773 )

IMPC - UCD

hematopoietic system

increased lymphocyte cell number ( J:211773 )

IMPC - UCD

abnormal spleen morphology ( J:211773 )

IMPC - UCD

immune system

increased lymphocyte cell number ( J:211773 )

IMPC - UCD

abnormal spleen morphology ( J:211773 )

IMPC - UCD

enlarged lymph nodes ( J:211773 )

IMPC - UCD

Allelic Composition	Chd8^tm1Kei/Chd8⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd8^tm1Kei mutation (1 available); any Chd8 mutation (108 available)

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

nervous system

increased brain weight ( J:235128 )

• brain weight is increased at E18.5

increased prepulse inhibition ( J:235128 )

• mice exhibit increased prepulse inhibition for 74- or 78-dB prepulses before a 120-dB startle stimulus

behavior/neurological

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

growth/size/body

megacephaly ( J:235128 )

• brain weight and volume are increased indicating macrocephaly

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

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

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

behavior/neurological

increased thigmotaxis ( J:267025 )

• adult males, but not females, show decreased center time in the open-field test under bright light

increased grooming behavior ( J:267025 )

• adult males, but not females, exhibit enhanced self-grooming when isolated for 3 days, but normal self-grooming and other repetitive behaviors when housed together

decreased locomotor activity ( J:267025 )

• adult males, but not females, show moderate hypoactivity in the open-field test under bright light

• however, adult males show no abnormalities in three-chamber and dyadic social interaction, nest building, and sleeping, anxiety/depression-like behavior, learning, and memory, olfaction, or motor coordination

abnormal social/conspecific interaction behavior ( J:267025 )

• in the maternal-homing test, male P19 juveniles, but not females, spend more time with their reunited mothers, suggesting enhanced mother-attachment behavior

• however, juveniles show normal open-field locomotion, juvenile play, and no differences in repetitive behaviors

excessive vocalization ( J:267025 )

• male P5-11 pups, but not females, emit ultrasonic vocalizations more frequently, rapidly, and for longer durations than wild-type pups when separated from their mothers

• however, adult males show no abnormalities in ultrasonic vocalizations

nervous system

abnormal brain morphology ( J:267025 )

• females, but not males, show an increase in local brain volume in regions including the anterior cingulate, anterior commissure, and cerebellum

abnormal nervous system electrophysiology ( J:267025 )

• males show enhanced excitatory, but normal inhibitory, neuronal firing and enhanced burst firing in the hippocampal CA1 region

• females show enhanced inhibitory, but normal excitatory, neuronal firing and a moderate decrease in mean burst duration in the hippocampal CA1 region

abnormal neuron physiology ( J:267025 )

• analysis of c-fos levels in the brain indicate that neuronal activity is suppressed in the female brain under baseline conditions, and following separation from the mother, becomes comparable to that seen in wild-type mice

• analysis of c-fos levels in the brain indicate that male brain shows normal baseline activity but displays excessive neuronal excitation in response to maternal separation

abnormal miniature inhibitory postsynaptic currents ( J:267025 )

• the frequency and amplitude of miniature inhibitory postsynaptic currents are decreased in male CA1 pyramidal neurons, whereas the frequency, but not amplitude, are increased in females

• however, spontaneous inhibitory postsynaptic currents (sIPSCs) are normal in male and female neurons, excitatory synaptic transmission in CA1 neurons and intrinsic neural excitability are normal, and in the mPFC, male and female layer II/III pyramidal neurons show normal synaptic transmission and intrinsic excitability

decreased miniature inhibitory postsynaptic current amplitude ( J:267025 )

• in male CA1 pyramidal neurons

decreased miniature inhibitory postsynaptic current frequency ( J:267025 )

• in male CA1 pyramidal neurons

increased miniature inhibitory postsynaptic current frequency ( J:267025 )

• in female CA1 pyramidal neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:267025

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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