Phenotypes associated with this allele
Allelic Composition |
En1tm2Alj/En1tm2Alj
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
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nervous system
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• amount of rhombomere 1 tissue is reduced in mutants
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• amount of tissue is reduced in mutants
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• structure does not form
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• reduced in size; in some animals only small amount of tissue forms
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• some lateral tissue is present at E18.5
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embryo
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• amount of rhombomere 1 tissue is reduced in mutants
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Allelic Composition |
En1tm2Alj/En1+
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
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nervous system
N |
• cerebellum and colliculi have normal morphology at E18.5
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
En2tm2Alj mutation
(0 available);
any
En2 mutation
(104 available)
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nervous system
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• most or all of r1 deleted by E9.5
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• most or all of r1 deleted by E9.5
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• development normal through early somite stage but abnormal by 10-12 somite stage
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• general deletion of the mesencephalon/anterior metencephalon region at E9.5
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• mostly, if not entirely, deleted at E9.5
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• reduced in overall size by one-third at E18.5
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embryo
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• most or all of r1 deleted by E9.5
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• most or all of r1 deleted by E9.5
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
En2tm2Alj mutation
(0 available);
any
En2 mutation
(104 available)
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mortality/aging
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• no mutants are detected after birth
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nervous system
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• at E18.5, no cerebellum is observed
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Allelic Composition |
En1tm2Alj/En1+ En2tm2Alj/En2+
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Genetic Background |
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
En2tm2Alj mutation
(0 available);
any
En2 mutation
(104 available)
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nervous system
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• delay in cerebellum foliation is observed in adult mice
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• in E18.5 mutants, there is a general delay in fissure formation in vermis; less severe than in En2tm2Alj homozygotes
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• vermis displays fused folia, and folia I, II, and III are smaller than normal in adults
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• folium VIII is positioned between lobule VII and IX; folium VIII position is shifted posteriorly but less than in En2tm2Alj homozygotes
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
En2tm2Alj mutation
(0 available);
any
En2 mutation
(104 available)
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mortality/aging
N |
• mutants survive to adulthood
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nervous system
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• severely truncated in one mutant and fused with folia I-V remnants
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• at E18.5, absent in 1 mutant
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• at E18.5, structure is absent (1 mutant) or only small amount of tissue is present
• partially truncated in adults
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• at E11.5, truncation of tectum is greater than in En2tm2Alj homozygotes
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• in posterior hemisphere crusil and paramedian folia are fused; in one embryo, a partial fissure separating crusil and paramedian folia is observed at E18.5
• hemispheres are reduced in size compared to En2tm2Alj adult homozygotes
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• delay in cerebellum foliation is more severe than in En2tm2Alj homozygotes
• there are more foliation defects adults than in En2tm2Alj adult homozygotes or or En1tm2Alj / En2tm2Alj adult double heterozygotes
• in most mutants, the five anterior-most folia (I-V) are replaced by a single fold
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• only 1 distinct folium is present in anterior vermis
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• substantial deletion of folium VIII is detected in adults
• in some mutants, folium VIII is absent or reduced in size and misaligned with folium IX; in one mutant folia I-V are almost completely absent and fused to profoundly truncated tectum
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• at E18.5, no cerebellum is observed in some mutants
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• reduced in overall size by half at E18.5 in some mutants
• size reduction in adults is greater than in En2tm2Alj or En1tm2Alj / En2tm2Alj adult heterozygotes
• size reduction at E11.5 is greater than in En2tm2Alj homozygotes
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
En1tm3(En2)Alj mutation
(0 available);
any
En1 mutation
(32 available)
En2tm2Alj mutation
(0 available);
any
En2 mutation
(104 available)
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nervous system
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• reduced in size at E18.5
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• in posterior hemisphere crusil and paramedian folia are fused; in one embryo, a partial fissure separating crusil and paramedian folia is observed
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• foliation defects are milder than in En1tm2Alj /+, En2tm2Alj homozygotes; most mutants have foliation pattern similar to hemispheres of En2tm2Alj homozygotes
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• subregion VIII (posterior vermis) is not present at E18.5
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• at E18.5, reduced in overall size by one-third relative to controls
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2Alj mutation
(1 available);
any
En1 mutation
(32 available)
Tg(Th-EGFP)6-7Okn mutation
(0 available)
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nervous system
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• nigral tyrosine hydroxylase-positive dopaminergic (TH) neurons are reduced in number by 18% as compared to controls beginning at 16 weeks of age, progressing to 40% at 24 weeks
• numbers of TH+ neurons are similar to controls at 4 weeks
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• progressive degeneration of nigrostriatal axon terminals
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• enlarged axon terminals contain accumulations of abnormal mitochondria, electron-dense bodies, and abnormal autophagolysosomes
• enlarged axons from the median forebrain bundle appear fragmented and swollen
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• nigrostriatal neurons exhibit spheroidal dystrophic axon terminals beginning at 8 days
• spheroids contain electron dense autophagic vacuoles
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• nigrostriatal terminals in the dorsal striatum of 16 week old mice are deficient in KCl-evoked dopamine release and uptake
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homeostasis/metabolism
cellular
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• autophagic protein degradation is reduced in dopaminergic neurons
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