Mouse Genome Informatics
hm1
    Arxtm1Gldn/Arxtm1Gldn
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
endocrine/exocrine glands
N
• beta cell do not transdifferentiate into alpha cells unlike in Nkx2-2tm2.1Suss homozygotes (J:177838)

homeostasis/metabolism
(J:177838)


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

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• whole brain is smaller than wild-type brain at E18.5 (J:138839)
• normal distribution of interneurons in cerebral cortex is lost in mutants, with Calb1+ interneurons restricted to subcortical and subventricular regions (J:138839)
• olfactory bulbs are nearly absent at E18.5 (J:138839)


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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:148311)
• a siginificant number of mutant males die early in the postnatal period (J:148311)

behavior/neurological
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms (J:148311)
• some mice display arrest of acitivity/freezing seizures (J:148311)
• all adult mice develop spontaneous brief seizures (J:148311)
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing (J:148311)

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls (J:148311)
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms (J:148311)
• some mice display arrest of acitivity/freezing seizures (J:148311)
• all adult mice develop spontaneous brief seizures (J:148311)
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing (J:148311)
• 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 (J:148311)
• smaller reductions are observed in numbers and distribution of calretinin-labeled neurons compared to controls (J:148311)
• in P90-120 day-old mice, EEG is disrupted compared to controls; mice display pattern of moderate to higher amplitude and faster frequency activity (J:148311)
• abnormal activity is more apparent in the hippocampal rather than cortical electrodes (J:148311)
• 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 (J:148311)
• while sleeping, a lack of normal delta power and rhythmic delta activity seen in controls (J:148311)
• mice have a decrease in delta activity and an increase in faster frequency activity (J:148311)
• P14-17 animals display EEGs with slower background with lower voltage than mature controls; one animal showed infrequent large amplitude spikes (J:148311)

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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• some adult mice develop convulsive Racine stage 5 seizures (J:148311)
• some adult mice display epileptic spasm seizures (J:148311)
• some adult mice display arrest of acitivity/freezing seizures (J:148311)
• about half of adult female mice develop spontaneous brief seizures of various types (J:148311)
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages (J:148311)

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls (J:148311)
• some adult mice develop convulsive Racine stage 5 seizures (J:148311)
• some adult mice display epileptic spasm seizures (J:148311)
• some adult mice display arrest of acitivity/freezing seizures (J:148311)
• about half of adult female mice develop spontaneous brief seizures of various types (J:148311)
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages (J:148311)
• 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 (J:148311)
• a significant reduction is observed in numbers and distribution of calretinin-labeled neurons compared to controls (J:148311)
• 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 (J:148311)
• females show no decrease in Delta band activity, but do exhibit an increase in faster frequency activity like male mutants (J:148311)

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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype