Mouse Genome Informatics
cx1
    Nlgn3tm1Rhn/Y
Tg(Pcp2-tTA)3Horr/0

involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
N
• mice in the absence of doxycycline (Nlgn3 expression is on) exhibit rescue of the neurological phenotypes seen in Nlgn3 single hemizygotes (J:187744)
• mutants raised in the presence of doxycycline (Nlgn3 expression is off) and then the doxycycline is removed to allow for Nlgn3 reexpression, exhibit removal of ectopic synapses from the distal Purkinje cell dendritic tree (J:187744)


Mouse Genome Informatics
cx2
    Tg(Pcp2-tTA)3Horr/0
Tg(tetO-ATXN1*82Q)#Horr/Tg(tetO-ATXN1*82Q)#Horr

involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• by 12 weeks of age, but not at 6 weeks of age, mutants start to show signs of ataxia by home cage behavior
• by 32 weeks of age, mutants exhibit overt ataxia
• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in improvement in home cage behavior
• 6 week old mutants exhibit a moderate deficiency on the accelerating rotarod which gets worse at 12 weeks of age and by 32 weeks of age, mutants are unable to stay on the accelerating rotarod
• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in a partial improvement in rotarod performance, but only after an extended period of dox treatment

nervous system
• 6 week old mutants exhibit a mild Purkinje cell atrophy that includes cytoplasmic vacuoles, some dendritic pruning, heterotypic Purkinje and nuclear inclusions
• by 12 and 32 weeks of age, Purkinje cell atrophy is very extensive
• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in improvement of Purkinje cell pathology
• at 12 weeks of age, mutants exhibit a decrease in dendritic arborization and distribution of spines along the remaining dendrites
• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in increased arborization of the Purkinje cell dendritic tree

Mouse Models of Human Disease
OMIM IDRef(s)
Spinocerebellar Ataxia 1; SCA1 164400 J:95453