About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Arid1bem1Hzhu
endonuclease-mediated mutation 1, Hao Zhu
MGI:6116819
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Arid1bem1Hzhu/Arid1bem1Hzhu C57BL/6J-Arid1bem1Hzhu MGI:6159714
ht2
Arid1bem1Hzhu/Arid1b+ C57BL/6J-Arid1bem1Hzhu MGI:6159715


Genotype
MGI:6159714
hm1
Allelic
Composition
Arid1bem1Hzhu/Arid1bem1Hzhu
Genetic
Background
C57BL/6J-Arid1bem1Hzhu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid1bem1Hzhu mutation (0 available); any Arid1b mutation (109 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are born but die perinatally

growth/size/body
• P0 homozygotes are significantly smaller than wild-type controls




Genotype
MGI:6159715
ht2
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 (109 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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory