Phenotypes associated with this allele

• Allele Symbol: Skor2^tm1Yono
• Allele Name: targeted mutation 1, Yuichi Ono
• Allele ID: MGI:5613907
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Skor2^tm1Yono/Skor2^tm1Yono	involves: 129 * C57BL/6	MGI:5613908

Genotype
MGI:5613908

hm1

• Allelic Composition: Skor2^tm1Yono/Skor2^tm1Yono
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:208769 )

• all die within 24 h after birth

nervous system

abnormal Purkinje cell migration ( J:208769 )

• impaired migration and somal positioning in the Purkinje plate at E14.5

• at E17.5 many cells have not yet moved toward the external granule cell layer (EGL) and by P0 most cells have moved near the EGL but have not yet reached their final destination unlike in controls

reduced cerebellar foliation ( J:208769 )

• at P0 foliation is less well developed

abnormal Purkinje cell morphology ( J:208769 )

• at P0 highly rounded nuclei are seen in most cells, the somatas are less directional and cellular processes appear to be randomly extended indicating a defect in polarization

abnormal Purkinje cell differentiation ( J:208769 )

• expression analysis indicates a blockade in differentiation and maturation and the aberrant acquisition of a glutamatergic phenotype

• some cells near the boundary between Purkinje cells and interneurons display markers of both cell types

• however, specification of Purkinje cell fate is not impaired in most developing Purkinje cells

• expression analysis indicates a block in maturation by E14.5

abnormal Purkinje cell dendrite morphology ( J:208769 )

• impaired dendrite extension at P0

• however, axonal projections are similar to controls

decreased Purkinje cell number ( J:208769 )

• slightly reduced at P0

small cerebellum ( J:208769 )

• at P0

cellular

abnormal Purkinje cell differentiation ( J:208769 )

• expression analysis indicates a blockade in differentiation and maturation and the aberrant acquisition of a glutamatergic phenotype

• some cells near the boundary between Purkinje cells and interneurons display markers of both cell types

• however, specification of Purkinje cell fate is not impaired in most developing Purkinje cells

• expression analysis indicates a block in maturation by E14.5

abnormal Purkinje cell migration ( J:208769 )

• impaired migration and somal positioning in the Purkinje plate at E14.5

• at E17.5 many cells have not yet moved toward the external granule cell layer (EGL) and by P0 most cells have moved near the EGL but have not yet reached their final destination unlike in controls