All Phenotypes Arid1b<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Arid1b^em1Hzhu/Arid1b⁺	C57BL/6J-Arid1b^em1Hzhu	MGI:6159715
ht2	Arid1b^em1Iha/Arid1b⁺	C57BL/6J-Arid1b^em1Iha	MGI:6286096
ht3	Arid1b^em1(IMPC)Tcp/Arid1b⁺	C57BL/6NCrl-Arid1b^em1(IMPC)Tcp/Tcp	MGI:6261901

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

growth/size/body

decreased body size ( J:256668 )

• heterozygotes survive into adulthood and appear healthy but are small for age

decreased body weight ( J:256668 )

• heterozygotes show decreased body weight with no apparent changes in food intake or water consumption

• after 40 days of treatment with recombinant mouse GH (rmGH), heterozygotes gain significantly more body weight than wild-type controls

• treatment with recombinant human IGF1 (rhIGF1) failed to rescue the body weight abnormality

decreased body length ( J:256668 )

• heterozygotes show reduced nose-to-rump length relative to wild-type controls

• after 40 days of treatment with recombinant mouse GH (rmGH), heterozygotes gain significantly more nose-to-rump length than wild-type controls

postnatal growth retardation ( J:256668 )

• growth retardation is reversed by exogenous GH supplementation

behavior/neurological

behavior/neurological phenotype ( J:256668 )

N	• heterozygotes show no significant deficits in locomotor activity, memory and learning, or foot shock sensitivity relative to wild-type controls

increased anxiety-related response ( J:256668 )

• in the open field test, heterozygotes spend significantly more time in the periphery, avoiding the anxiety-provoking center

• in the elevated plus maze, heterozygotes spend more time in the anxiety-relieving, walled arms of the maze

• in the dark-light box test, male heterozygotes avoid exploring the brightly lit chamber

• treatment with either recombinant human IGF1 (rhIGF1) or recombinant mouse GH (rmGH) failed to rescue the anxiety behavioral phenotype, as measured in the elevated plus maze

abnormal response to social novelty ( J:256668 )

• heterozygotes spend significantly less time interacting with unfamiliar juvenile mice

increased grooming behavior ( J:256668 )

• heterozygotes show increased self-grooming behavior and, potentially as a result, bury less marbles than wild-type controls in the marble-burying test

decreased grip strength ( J:256668 )

• at baseline, both fore- and hindlimb grip strength is lower than that in wild-type controls

• after 40 days of treatment with rmGH, heterozygotes gain significantly more grip strength than wild-type controls

abnormal vocalization ( J:256668 )

• during separation of pups from dams at P4, ultrasonic vocalizations (USVs ) are longer in duration and have an abnormal pitch

• however, total number of USVs emitted is normal relative to wild-type controls

nervous system

hydrocephaly ( J:256668 )

• 6.6% of heterozygotes exhibit hydrocephalus

decreased corpus callosum size ( J:256668 )

• at P50, corpus callosum volume is significantly reduced

abnormal dentate gyrus subgranular zone morphology ( J:256668 )

• a reduction in proliferating cells is observed in the subgranular zone of the dentate gyrus, esp. in posterior regions

decreased dentate gyrus size ( J:256668 )

• at P50, dentate gyrus volume is significantly reduced

decreased cerebral cortex cell number ( J:256668 )

• decreased cortex thickness is accompanied by reduced TBR1+ neuronal cellularity (TBR1 is an early neuronal marker)

thin cerebral cortex ( J:256668 )

• heterozygous pups show decreased cortex thickness with reduced TBR1+ neuronal cellularity

decreased neuron number ( J:256668 )

• reduced cortical thickness is accompanied by reduced neuron numbers

abnormal hypothalamus physiology ( J:256668 )

• in the mediobasal hypothalamus, Ghrh mRNA levels are similar to those in wild-type controls, indicating a lack of appropriate GHRH response to the observed IGF1 deficiency

homeostasis/metabolism

abnormal homeostasis ( J:256668 )

• heterozygotes exhibit GHRH-GH-IGF1 axis deficiencies

abnormal insulin-like growth factor I level ( J:256668 )

• heterozygotes show a significant reduction in Igf1 mRNA levels in the liver, a major source of IGF1

decreased circulating insulin-like growth factor I level ( J:256668 )

• heterozygotes show a significant reduction in plasma IGF1 levels relative to wild-type controls

• however, fasting growth hormone (GH) levels and Gh mRNA expression in the pituitary are normal, and GH levels increase normally in response to exogenous growth hormone-releasing hormone (GHRH)

muscle

muscle weakness ( J:256668 )

• at P50, heterozygous exhibit muscle weakness, as shown by grip strength testing

• muscle strength is significantly improved by exogenous GH supplementation

cardiovascular system

small heart ( J:256668 )

• hearts are disproportionally small

decreased heart weight ( J:256668 )

• heart/body weight ratio is significantly lower than that in wild-type controls

renal/urinary system

small kidney ( J:256668 )

• kidneys are disproportionally small

decreased kidney weight ( J:256668 )

• kidney/body weight ratio is significantly lower than that in wild-type controls

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder	DOID:0060041		J:256668
Coffin-Siris syndrome 1	DOID:0070042	OMIM:135900	J:256668

Allelic Composition	Arid1b^em1Iha/Arid1b⁺
Genetic Background	C57BL/6J-Arid1b^em1Iha

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid1b^em1Iha mutation (0 available); any Arid1b mutation (107 available)

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

growth/size/body

decreased body weight ( J:271850 )

• average body weight is lower at 10-13 weeks of age

• mice with hydrocephalus have reduced body weight relative to mutant mice without hydrocephalus

• however, mice exhibit normal body temperature

behavior/neurological

enhanced cued conditioning behavior ( J:271850 )

• in the cued test, the freezing time of mutants is increased without conditional stimulus on the day after conditioning and the tendency is maintained for 30 days

decreased exploration in new environment ( J:271850 )

• in the open field test, mice exhibit reduced exploratory behaviors, including distance traveled and vertical activity, however time spend in the center area does not differ from wild-type mice

abnormal long-term spatial reference memory ( J:271850 )

• in the Barnes maze, mutants exhibit a similar latency in reaching the target across acquisition sessions as wild-type mice, but in the probe trial 24 hours after the acquisition, mutants spend more time around the target hole than wild-type mice, suggesting normal spatial learning ability and improved memory

cognitive inflexibility ( J:271850 )

• in the Barns maze, mutants exhibit elevated perserveration, as indicated by a longer latency in reaching a target box in the opposite location during the reversal task

increased anxiety-related response ( J:271850 )

• in the elevated plus maze, mice show a lower number of entries into open and closed arms, a lower percentage of entries into open arms, spend less time in the open arms, and travel a lower total distance indicating increased anxiety-like behaviors

increased fear-related response ( J:271850 )

• exposure to intense stimuli such as electric foot shock or forced swim test induces larger locomotor responses than in wild-type mice

• in the contextual and cued fear conditioning test, mutants show less freezing during conditioning than wild-type mice, similar levels of freezing as wild-type mice in the context test, and more freezing in the altered context in the absence of a conditioned stimulus indicating an increase in fear generalization

slow extinction of fear memory ( J:271850 )

• freezing time caused by conditional stimulus in the cued test 30 days after conditioning is longer suggesting enhanced long-term fear memory

decreased startle reflex ( J:271850 )

• startle reflex responses caused by 110 dB stimuli are reduced

• however, startle responses caused by 120 dB are similar as in wild-type mice

impaired coordination ( J:271850 )

• in the rotarod test, the latency of falling off the accelerating rotating rod is lower

• in the balance beam test, mice exhibit slower movement speed, longer duration of movement, and higher number of slips when crossing wide or narrow beams

• the number of movements is higher on the narrow beam and the latency of reaching the goal is larger on the wide beam

decreased grip strength ( J:271850 )

• grip strength and the length of falling off the wire mesh in the wire hang test are lower

increased stereotypic behavior ( J:271850 )

• in the open field test, mice show stereotypic counts that possibly reflect repetitive behaviors

increased thermal nociceptive threshold ( J:271850 )

• in the hot-plate test, latency of paw responses to a nociceptive stimulus tend to be higher

abnormal social investigation ( J:271850 )

• mice exhibit altered social behavior in the home cage, showing increased contact time with each other, however, overall activity levels are normal

• however, in a novel environment, mice exhibit normal social behavior in the social interaction test and the three-chamber test

cardiovascular system

abnormal brain vasculature morphology ( J:271850 )

• mice with hydrocephalus exhibit brains with a cavity with new vascularization

nervous system

abnormal brain vasculature morphology ( J:271850 )

• mice with hydrocephalus exhibit brains with a cavity with new vascularization

hydrocephaly ( J:271850 )

• 5 of 9 mice exhibit severe hydrocephalus

enlarged lateral ventricles ( J:271850 )

• mice with hydrocephalus have enlarged lateral ventricle

abnormal hippocampus pyramidal cell layer ( J:271850 )

• mice with hydrocephalus show corruption of the pyramidal cell layer of the hippocampus

decreased prepulse inhibition ( J:271850 )

• in response to a 110 dB stimulus, heterozygotes exhibit levels of prepulse inhibition (PPI) stimulus similar to wild-type littermates but at 120 dB, the PPI is lower than that of wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:271850

Allelic Composition	Arid1b^em1(IMPC)Tcp/Arid1b⁺
Genetic Background	C57BL/6NCrl-Arid1b^em1(IMPC)Tcp/Tcp

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid1b^em1(IMPC)Tcp mutation (1 available); any Arid1b mutation (107 available)

Data Sources

IMPC Data for Arid1b

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

behavior/neurological

impaired cued conditioning behavior ( J:211773 )

IMPC - TCP

decreased exploration in new environment ( J:211773 )

IMPC - TCP

abnormal freezing behavior ( J:211773 )

IMPC - TCP

increased freezing behavior ( J:211773 )

IMPC - TCP

decreased locomotor activity ( J:211773 )

IMPC - TCP

hematopoietic system

abnormal spleen morphology ( J:211773 )

IMPC - TCP

homeostasis/metabolism

increased circulating creatinine level ( J:211773 )

IMPC - TCP

decreased fasting circulating glucose level ( J:211773 )

IMPC - TCP

immune system

abnormal spleen morphology ( J:211773 )

IMPC - TCP

nervous system

decreased prepulse inhibition ( J:211773 )

IMPC - TCP

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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