Phenotypes Associated with This Genotype

Genotype
MGI:3625522

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: C57BL/6J-Kcnj6^wv

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

mortality/aging

lethality at weaning, incomplete penetrance ( J:30520 )

• Background Sensitivity: majority die at about 3 weeks of age

premature death ( J:13422 , J:30520 )

• most homozygous mutants do not live to maturity (J:13422)

• almost all mutants die within a year, whereas normal littermates live considerably longer (J:30520)

growth/size/body

decreased body size ( J:30520 )

• obvious 8 to 10 days after birth

decreased body weight ( J:30520 )

• mutants weigh about 50 percent of control sibling weight until the second month when they reach control sibling weight

behavior/neurological

decreased food intake ( J:30520 )

• mutants nurse poorly

abnormal motor capabilities/coordination/movement ( J:13422 )

• author states that behavior resembles that of Reln^rl and Rora^sg; no data is given

tremors ( J:30520 )

• a fine, rapid tremor is seen in the trunk and extremities

• the mouse moving accentuates the tremor

abnormal motor coordination/balance ( J:30520 )

• coordination is better in the second week of life than in the third week

• adult mice are unable to stand or step forward without falling over

impaired righting response ( J:30520 )

abnormal gait ( J:30520 )

weaving ( J:30520 )

induced hyperactivity ( J:30520 )

• unique to cerebellar mutants: mice may leap when excited or agitated despite being neurologically compromised

abnormal maternal nurturing ( J:30520 )

♀

tonic-clonic seizures ( J:30520 )

reproductive system

reduced female fertility ( J:30520 )

♀

reduced male fertility ( J:30520 )

♂

nervous system

tonic-clonic seizures ( J:30520 )

abnormal cerebellum development ( J:30520 )

abnormal cerebellum external granule cell layer morphology ( J:30520 )

• extensive degeneration of external granule cells prior to migration to form granule layer

abnormal cerebellar Purkinje cell layer ( J:30520 )

• during greatest mitotic activity, some granule cells are degenerating

increased Purkinje cell number ( J:30520 )

• relative to the volume of cerebellar cortical tissue

abnormal cerebellar granule layer morphology ( J:30520 )

• almost complete absence of granule cells

• cells are restricted to the most lateral portions of the cerebellar hemisphere and paraflocculus

abnormal cerebellar granule cell morphology ( J:15542 )

• granule cell neurons in the cerebellum have an unusually large number of coated vesicles throughout the length of the neurite in mutants

• microtubules in mutant granule cell neurites are less densely packed, curving and crossing along the neurite length and delimiting the neurite perimeter while in wild-type microtubules fill the internal dimensions of the neurite

• cytoskeletal organization of mutant granule cell neurons in mutants shows a denser cytoplasmic matrix, indistinct skeletal structure of the cytoplasm, and microtubules delineating the boundary of microspike-like projections and entering them

abnormal cerebellar molecular layer ( J:30520 )

• during greatest mitotic activity, the majority of granule cells are degenerating

absent cerebellum fissure ( J:30520 )

absent cerebellar lobules ( J:30520 )

small cerebellum ( J:30520 )

• abnormally small at 5 to 7 days and thereafter

• about one-fourth the size of normal in mature mice