About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:6159715
Allelic
Composition
Arid1bem1Hzhu/Arid1b+
Genetic
Background
C57BL/6J-Arid1bem1Hzhu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid1bem1Hzhu mutation (0 available); any Arid1b mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• heterozygotes survive into adulthood and appear healthy but are small for age
• 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
• 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
• growth retardation is reversed by exogenous GH supplementation

behavior/neurological
N
• heterozygotes show no significant deficits in locomotor activity, memory and learning, or foot shock sensitivity relative to wild-type controls
• 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
• heterozygotes spend significantly less time interacting with unfamiliar juvenile mice
• heterozygotes show increased self-grooming behavior and, potentially as a result, bury less marbles than wild-type controls in the marble-burying test
• 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
• 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
• 6.6% of heterozygotes exhibit hydrocephalus
• at P50, corpus callosum volume is significantly reduced
• a reduction in proliferating cells is observed in the subgranular zone of the dentate gyrus, esp. in posterior regions
• at P50, dentate gyrus volume is significantly reduced
• decreased cortex thickness is accompanied by reduced TBR1+ neuronal cellularity (TBR1 is an early neuronal marker)
• heterozygous pups show decreased cortex thickness with reduced TBR1+ neuronal cellularity
• reduced cortical thickness is accompanied by reduced neuron numbers
• 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
• heterozygotes exhibit GHRH-GH-IGF1 axis deficiencies
• heterozygotes show a significant reduction in Igf1 mRNA levels in the liver, a major source of IGF1
• 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
• at P50, heterozygous exhibit muscle weakness, as shown by grip strength testing
• muscle strength is significantly improved by exogenous GH supplementation

cardiovascular system
• hearts are disproportionally small
• heart/body weight ratio is significantly lower than that in wild-type controls

renal/urinary system
• kidneys are disproportionally small
• kidney/body weight ratio is significantly lower than that in wild-type controls


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 & Copyright Notice
Send questions and comments to User Support.
last database update
02/11/2020
MGI 6.14
The Jackson Laboratory