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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Btbd9tm1d(EUCOMM)Wtsi
targeted mutation 1d, Wellcome Trust Sanger Institute
MGI:6488232
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Btbd9tm1d(EUCOMM)Wtsi/Btbd9tm1d(EUCOMM)Wtsi involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N MGI:6488226


Genotype
MGI:6488226
hm1
Allelic
Composition
Btbd9tm1d(EUCOMM)Wtsi/Btbd9tm1d(EUCOMM)Wtsi
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N
Cell Lines EPD0631_3_A09
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btbd9tm1d(EUCOMM)Wtsi mutation (0 available); any Btbd9 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show decreased latency to fall in the rotarod test and have a 228% increase of slips in the beam walking test

nervous system
• Purkinje cells exhibit decreased capacitance indicating that they are smaller in size
• mice show an increase in the percentage of non-tonic Purkinje cells
• spontaneous activity of tonic Purkinje cells is increased
• tonic Purkinje cells exhibit a higher intrinsic excitability compared to controls
• however, Purkinje cells show no changes in the membrane potential and resistance
• electrophysiological recordings show enhanced short-term plasticity at the corticostriatal terminals to D1 medium spiny neurons
• mice show increased paired-pulse facilitation from D1 medium spiny neurons
• although no change in postsynaptic sEPSC of D1 medium spiny neurons is seen, mice show higher membrane resistance

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
restless legs syndrome DOID:0050425 OMIM:PS102300
J:282582





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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory