Phenotypes associated with this allele

• Allele Symbol: Slc26a11^tm1.1Cidz
• Allele Name: targeted mutation 1,1, Chris I de Zeeuw
• Allele ID: MGI:5888744
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Slc26a11^tm1.1Cidz/Slc26a11^tm1.1Cidz Tg(Pcp2-cre)2Mpin/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5897352

Genotype
MGI:5897352

cn1

• Allelic Composition: Slc26a11^tm1.1Cidz/Slc26a11^tm1.1Cidz; Tg(Pcp2-cre)2Mpin/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

abnormal action potential ( J:240359 )

• in vitro, spontaneous action potential firing frequency is significantly higher than that in control Purkinje cells when the inhibitory input is present; firing frequency of Purkinje cells remains significantly higher when both inhibitory and excitatory inputs are blocked in the presence of the GABA_AR-blocker picrotoxin

• in vivo recordings showed a significant increase in simple spike firing frequency of Purkinje cells relative to those in wild-type mice

• however, both the level of regularity of simple spike firing and complex spike frequency remain normal

abnormal afterhyperpolarization ( J:240359 )

• the amplitude of afterhyperpolarization is significantly smaller than that in control Purkinje cells

abnormal GABA-mediated receptor currents ( J:240359 )

• following application of the GABA_AR agonist muscimol to proximal dendrites of Purkinje cells, the reversal potential of GABA_A-current (E_GABA) is significantly more hyperpolarized than in control Purkinje cells, as shown by a negative shift in E_GABA

• however, the resting membrane potential is not significantly altered in Purkinje cells

increased miniature inhibitory postsynaptic current frequency ( J:240359 )

• the frequency of spontaneous inhibitory postsynaptic currents (sIPSCs) is significantly higher than that in control Purkinje cells

• no differences are noted in the maximum amplitude or in the rise and decay time of sIPSCs relative to control cells

• in vitro cell-attached recordings of molecular layer interneurons revealed normal firing frequency in presynaptic interneurons

homeostasis/metabolism

abnormal chloride level ( J:240359 )

• perforated patch clamp recordings of Purkinje cells revealed a negative shift in the reversal potential of chloride as reflected in the GABA_A-receptor evoked currents, indicating a decrease in intracellular chloride concentration; on average, [Cl^-]i is 35% lower than that in control Purkinje cells

behavior/neurological

behavior/neurological phenotype ( J:240359 )

N • mice exhibit no detectable differences during performance or adaptation of compensatory eye movements relative to control mice

impaired coordination ( J:240359 )

• in the Erasmus Ladder paradigm, mice exhibit a significantly higher number of steps per session during both perturbed and non-perturbed (baseline) sessions

• mice show a higher % of small steps and a lower % of large steps than wild-type mice in all sessions

• however, the average step time is not significantly altered