Phenotypes associated with this allele

• Allele Symbol: Phyhipl^em1Tsdk
• Allele Name: endonuclease-mediated mutation 1, Tetsushi Sadakata
• Allele ID: MGI:6726306
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phyhipl^em1Tsdk/Phyhipl^em1Tsdk	involves: C57BL/6J	MGI:7607158

Genotype
MGI:7607158

hm1

• Allelic Composition: Phyhipl^em1Tsdk/Phyhipl^em1Tsdk
• Genetic Background: involves: C57BL/6J

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

nervous system

abnormal Purkinje cell morphology ( J:307852 )

• cerebellar Purkinje cells (PCs) are round-shaped rather than pear-shaped

decreased Purkinje cell number ( J:307852 )

• at P21, the cell density of calbindinpositive cerebellar PCs is significantly lower than that in wild-type PCs

decreased Purkinje cell size ( J:307852 )

• at P21, cerebellar PC area (soma size) is significantly smaller than that in wild-type PCs

• both the longitudinal diameter (height) and the transversal diameter (width) of the PC soma are decreased, resulting in a significantly smaller height/width ratio at P21

abnormal cerebellar molecular layer ( J:307852 )

• at P21, the density of VGAT puncta in the molecular layer (ML) is significantly lower than that in wild-type mice

• however, the density DAPI positive cells in the ML is normal

thin cerebellar molecular layer ( J:307852 )

• at P21, the thickness of the molecular layer is slightly smaller than that in the wild-type cerebellum

abnormal Purkinje cell innervation ( J:307852 )

• at P21, the height of climbing fiber (CF) projection relative to the thickness of the molecular layer (ML) is significantly smaller than that in the wild-type cerebellum

• however, the density of vGluT2 puncta in the ML is normal

decreased CNS synapse formation ( J:307852 )

• at P21, mice exhibit decreased formation of ML interneuron-PC synapses

behavior/neurological

abnormal motor learning ( J:307852 )

impaired coordination ( J:307852 )

• at 10-11 weeks of age, mice exhibit impaired motor coordination with a significantly shorter latency to fall from an accelerating rotard on the fourth testing day

• however, home cage behavior is normal