Phenotypes associated with this allele

• Allele Symbol: Plaa^em1Pmi
• Allele Name: endonuclease-mediated mutation 1, Pleasantine Mill
• Allele ID: MGI:5828117
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plaa^em1Pmi/Plaa^em1Pmi	C57BL/6J-Plaa^em1Pmi	MGI:6152463
ht2	Plaa^em1Pmi/Plaa^tm1(NCOM)Cmhd	either: (involves: C57BL/6J * C57BL/6NTac) or (involves: C57BL/6J * C57BL/6NTac * CD-1)	MGI:6152465

Genotype
MGI:6152463

hm1

• Allelic Composition: Plaa^em1Pmi/Plaa^em1Pmi
• Genetic Background: C57BL/6J-Plaa^em1Pmi

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

behavior/neurological

tremors ( J:240526 )

• early-onset postural tremor with kinetic aspect from age P7

ataxia ( J:240526 )

impaired balance ( J:240526 )

decreased grip strength ( J:240526 )

weakness ( J:240526 )

abnormal gait ( J:240526 )

• increase in back/front step length ratio

decreased locomotor activity ( J:240526 )

paraparesis ( J:240526 )

• failure to splay hindlimbs when suspended from tail

cellular

abnormal Purkinje cell migration ( J:240526 )

• failure to form uniform layer in cerebellum

growth/size/body

decreased body weight ( J:240526 )

• at age 4 weeks

• at age P14 and 8 weeks

mortality/aging

mortality/aging ( J:240526 )

N • viable and embryos born at normal Mendelian ratio

decreased survivor rate ( J:240526 )

• 50% of mice have to be culled by 6 months due to early-onset neurodysfunction

muscle

decreased skeletal muscle fiber diameter ( J:240526 )

skeletal muscle fiber atrophy ( J:240526 )

skeletal muscle necrosis ( J:240526 )

• muscle wasting

nervous system

abnormal Purkinje cell migration ( J:240526 )

• failure to form uniform layer in cerebellum

decreased brain size ( J:240526 )

decreased corpus callosum size ( J:240526 )

abnormal Purkinje cell morphology ( J:240526 )

• failure to form uniform layer in cerebellum

• no evidence of apoptosis in cerebellum

abnormal Purkinje cell dendrite morphology ( J:240526 )

• abnormal branching

small cerebellum ( J:240526 )

• at age 3 months

gliosis ( J:240526 )

• reactive gliosis as indicated by increased glial and complement-microglial markers in cerebellum of 3-months old mice

abnormal neuromuscular synapse morphology ( J:240526 )

• endplate innervation

• increased numbers of endplates with terminal swellings and/or sproutings

• reduction in untethered synaptic vessels (SVs) at active zone in levator auris longus muscle

• enlarged endosomal and vacuolar structures in levator auris longus muscle

decreased miniature inhibitory postsynaptic current amplitude ( J:240526 )

• reduced amplitude in cerebellum

• no change in frequency and decay kinetics

abnormal PNS synaptic transmission ( J:240526 )

• significant number of neuromuscular junctions failed to respond to nerve stimulation or gave intermittent response

abnormal miniature endplate potential ( J:240526 )

• increased mean frequency in muscle fibers

• increased half-decay time in some muscle fibers

• significantly increased incidence of giant MEPPs (GMEPPs)

skeleton

kyphosis ( J:240526 )

Genotype
MGI:6152465

ht2

• Allelic Composition: Plaa^em1Pmi/Plaa^{tm1(NCOM)Cmhd}
• Genetic Background: either: (involves: C57BL/6J * C57BL/6NTac) or (involves: C57BL/6J * C57BL/6NTac * CD-1)

behavior/neurological

limb grasping ( J:240526 )

• in hindlimbs when suspended from tail

tremors ( J:240526 )

impaired balance ( J:240526 )

weakness ( J:240526 )

abnormal gait ( J:240526 )

• increase in back/front step length ratio

decreased locomotor activity ( J:240526 )

paralysis ( J:240526 )

growth/size/body

decreased body weight ( J:240526 )

• at age P14

mortality/aging

preweaning lethality, complete penetrance ( J:240526 )

• mice die by P17-P21

nervous system

small cerebellum ( J:240526 )

• at age P20

abnormal neuromuscular synapse morphology ( J:240526 )

• increased numbers of endplates with terminal swellings from age P14

respiratory system

respiratory distress ( J:240526 )