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Phenotypes Associated with This Genotype
Genotype
MGI:6196032
Allelic
Composition
Arxtm4Kki/Y
Genetic
Background
involves: 129S/SvEv * C57BL/6NHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arxtm4Kki mutation (5 available); any Arx mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 55% of mice survive to P70
• first death occurs at P19, with only 86% of mice being successfully weaned, and with 55% surviving to P70

growth/size/body
• lower body weight throughout development and growth, with weight fluctuations often seen pre- and post-seizure
• mice weight 83% of control at P5, 73% of control at weaning, and 80-90% of control between P35 and P70

behavior/neurological
• mice travel less total distance and spend less time in the inner quadrants of the open field, suggesting decreased exploratory behavior
• mice travel greater distance and spend more time on the open arm of the elevated zero maze indicating increased exploratory behavior
• mice exhibit reduced spatial learning and memory in the Y-maze and Barnes maze, showing no preference for the novel arm in the Y-maze, an increase in time to locate the escape hole in the Barns maze and no preference towards the previously learned (familiar) or rotated (novel) location of the escape hole
• mice travel less total distance and spend less time in the inner quadrants of the open field, suggesting increased anxiety
• mice exhibit decreased fear response in the elevated zero maze, traveling a greater distance and spending more time in the open arm
• 32% of mice show one or more movement phenotypes (such as jumpy or erratic movements when handled or provoked, rapid uncontrolled movement around the cage, twitching ears, straight tail, or increased facial grooming), either singularly or in combination with a myoclonic seizure at 1 month of age which progresses to 91% of mice at P70
• mice show reduced locomotor activity in the open field
• mice show reduced sociability and social novelty, showing reduced interaction time within the chamber, regardless of the occupant
• mice show reduced social novelty, showing reduced interaction time with the novel mouse
• any interaction with a stranger or familiar mouse is at a greater distance
• first myoclonic seizures are seen at P18 during handling of mice
• by P21, 18% of mice exhibit myoclonic seizures
• by P70, 73% of mice exhibit spontaneous seizures

muscle
• first myoclonic seizures are seen at P18 during handling of mice
• by P21, 18% of mice exhibit myoclonic seizures
• by P70, 73% of mice exhibit spontaneous seizures

nervous system
• first myoclonic seizures are seen at P18 during handling of mice
• by P21, 18% of mice exhibit myoclonic seizures
• by P70, 73% of mice exhibit spontaneous seizures

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
early infantile epileptic encephalopathy DOID:0050709 J:260340


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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory