Phenotypes associated with this allele

• Allele Symbol: Kcnj6^tm1Stf
• Allele Name: targeted mutation 1, Markus Stoffel
• Allele ID: MGI:2183429
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnj6^tm1Stf/Kcnj6^tm1Stf	involves: 129S1/Sv * 129X1/SvJ	MGI:3852123
ht2	Kcnj6^tm1Stf/Kcnj6^wv	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3852163
cx3	Kcnj6^tm1Stf/Kcnj6^tm1Stf Kcnj9^tm1Kwn/Kcnj9^tm1Kwn	involves: 129S1/Sv * 129X1/SvJ	MGI:2676603

Genotype
MGI:3852123

hm1

• Allelic Composition: Kcnj6^tm1Stf/Kcnj6^tm1Stf
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

nervous system

increased susceptibility to pharmacologically induced seizures ( J:38206 )

• mutants are more susceptible to pharmacologically (pentylenetetrazole) induced seizures

environmentally induced seizures ( J:38206 )

• mutants develop spontaneous seizures when stressed, characterized by jerking of the head and body, vocalization, and infrequent progression to a tonic-clonic seizure, however exhibit normal brain and cerebellar morphology

tonic-clonic seizures ( J:38206 )

• spontaneous seizures sometimes progress to tonic-clonic seizures

abnormal synaptic transmission ( J:77047 )

• opioid ([Met]⁵ enkephalin)-induced hyperpolarization and whole-cell current is reduced by 40% in locus ceruleus neurons

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:38206 )

• mutants are more susceptible to pharmacologically (pentylenetetrazole) induced seizures

environmentally induced seizures ( J:38206 )

• mutants develop spontaneous seizures when stressed, characterized by jerking of the head and body, vocalization, and infrequent progression to a tonic-clonic seizure, however exhibit normal brain and cerebellar morphology

tonic-clonic seizures ( J:38206 )

• spontaneous seizures sometimes progress to tonic-clonic seizures

Genotype
MGI:3852163

ht2

• Allelic Composition: Kcnj6^tm1Stf/Kcnj6^wv
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

nervous system

abnormal cerebellar Purkinje cell layer ( J:38206 )

• Purkinje cell layer is disorganized in various locations and some of the Purkinje cells are found deep in the granule cell layer

thin cerebellar granule layer ( J:38206 )

Genotype
MGI:2676603

cx3

• Allelic Composition: Kcnj6^tm1Stf/Kcnj6^tm1Stf; Kcnj9^tm1Kwn/Kcnj9^tm1Kwn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

premature death ( J:77047 )

• between 2 and 8 months due to spontaneous seizures

behavior/neurological

seizures ( J:77047 )

• spontaneous lethal seizures between 2 and 8 months of age

nervous system

seizures ( J:77047 )

• spontaneous lethal seizures between 2 and 8 months of age

abnormal synaptic transmission ( J:77047 )

• resting membrane potentials of locus ceruleus neurons in brain slices are depolarized by 15-20 mV realative to neurons from wild-type mice

• opioid ([Met]⁵ enkephalin)-induced hyperpolarization and whole-cell current is reduced by 80% in locus ceruleus neurons

• the small opioid-sensitive current that is observed in locus ceruleus neurons is eliminated with the nonselective potassium channel blockers barium and cesium