Mouse Genome Informatics
hm1
    Arxtm1Gldn/Arxtm1Gldn
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype


Mouse Genome Informatics
cn2
    Arxtm1Gldn/Arxtm1Gldn
Nkx2-2tm2.1Suss/Nkx2-2tm2.1Suss
Tg(Ins2-cre)23Herr/0

involves: 129 * Black Swiss * C57BL/6 * CBA/J * SJL
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
N
• beta cell do not transdifferentiate into alpha cells unlike in Nkx2-2tm2.1Suss homozygotes

homeostasis/metabolism


Mouse Genome Informatics
cn3
    Arxtm1Gldn/Y
Tg(Pou3f4-cre)32Cren/0

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• whole brain is smaller than wild-type brain at E18.5
• normal distribution of interneurons in cerebral cortex is lost in mutants, with Calb1+ interneurons restricted to subcortical and subventricular regions
• olfactory bulbs are nearly absent at E18.5


Mouse Genome Informatics
cn4
    Arxtm1Gldn/Y
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129/Sv * C57BL/6 * CD-1 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected number of male offspring are recovered from litters from crosses between cre-expressing males and Arxtm1Gldn females
• a siginificant number of mutant males die early in the postnatal period

behavior/neurological
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
• some mice display arrest of acitivity/freezing seizures
• all adult mice develop spontaneous brief seizures
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
• some mice display arrest of acitivity/freezing seizures
• all adult mice develop spontaneous brief seizures
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing
• 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
• smaller reductions are observed in numbers and distribution of calretinin-labeled neurons compared to controls
• in P90-120 day-old mice, EEG is disrupted compared to controls; mice display pattern of moderate to higher amplitude and faster frequency activity
• abnormal activity is more apparent in the hippocampal rather than cortical electrodes
• adult animals show a lack of normal 4-7 Hz rhythmic theta activity while awake; hippocampal theta activity is rarely recorded, but when present has faster activity superimposed on the normal theta
• while sleeping, a lack of normal delta power and rhythmic delta activity seen in controls
• mice have a decrease in delta activity and an increase in faster frequency activity
• P14-17 animals display EEGs with slower background with lower voltage than mature controls; one animal showed infrequent large amplitude spikes

Mouse Models of Human Disease
OMIM IDRef(s)
Epileptic Encephalopathy, Early Infantile, 1; EIEE1 308350 J:148311


Mouse Genome Informatics
cn5
    Arxtm1Gldn/Arx+
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129/Sv * C57BL/6 * CD-1 * FVB/N
Key:
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
OMIM IDRef(s)
Epileptic Encephalopathy, Early Infantile, 1; EIEE1 308350 J:148311


Mouse Genome Informatics
ot6
    Arxtm1Gldn/Y
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype