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Phenotypes Associated with This Genotype
Genotype
MGI:3844353
Allelic
Composition
Arxtm1Gldn/Arx+
Tg(mI56i-cre,EGFP)1Kc/0
Genetic
Background
involves: 129/Sv * C57BL/6 * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arxtm1Gldn mutation (0 available); any Arx mutation (20 available)
Tg(mI56i-cre,EGFP)1Kc mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• some adult mice develop convulsive Racine stage 5 seizures
• some adult mice display epileptic spasm seizures
• some adult mice display arrest of acitivity/freezing seizures
• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
• some adult mice develop convulsive Racine stage 5 seizures
• some adult mice display epileptic spasm seizures
• some adult mice display arrest of acitivity/freezing seizures
• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
• a prominent reduction in calbindin-labeled neurons in the neocortex compared to controls in the hippocampus, pattern of staining of interneurons is altered from cell body staining to mainly staining interneuron processes
• a significant reduction is observed in numbers and distribution of calretinin-labeled neurons compared to controls
• EEGs of female mice exhibit abnormal background activity; EEG is periodically interrupted by longer runs of higher amplitude, faster rhythms, and demonstrates excessive sharp activity
• females show no decrease in Delta band activity, but do exhibit an increase in faster frequency activity like male mutants

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
early infantile epileptic encephalopathy DOID:0050709 J:148311


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