Phenotypes associated with this allele

• Allele Symbol: Del(6Snca)1Slab
• Allele Name: deletion, Chr 6, Schoepfer Lab 1
• Allele ID: MGI:2154692
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(6Snca)1Slab/Del(6Snca)1Slab	C57BL/6JOlaHsd	MGI:3510546
cx2	Tg(Camk2a-SNCA*)2Mgsp/0 Del(6Snca)1Slab/Del(6Snca)1Slab	B6JOlaHsd.Cg-Tg(Camk2a-SNCA*)2Mgsp	MGI:5696738
cx3	Del(6Snca)1Slab/Del(6Snca)1Slab Tg(Th-SNCA*)1Mgsp/0	involves: C57BL/6J * C57BL/6JOlaHsd * CBA/Ca	MGI:3758650

Genotype
MGI:3510546

hm1

• Allelic Composition: Del(6Snca)1Slab/Del(6Snca)1Slab
• Genetic Background: C57BL/6JOlaHsd

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

nervous system

abnormal dopaminergic neuron morphology ( J:93686 )

• no signs of Parkinsonism in mice up to ages beyond 1 year

• resistant to the effects of metamphetamine on dopamine and DOPAC levels

abnormal synapse morphology ( J:240628 )

• protein levels of sideroflexin 3 (SFXN3, a mitochondrial protein localized to the inner mitochondrial membrane) are significantly upregulated in synaptosomes relative to those in C57BL/6J control mice

Genotype
MGI:5696738

cx2

• Allelic Composition: Tg(Camk2a-SNCA*)2Mgsp/0; Del(6Snca)1Slab/Del(6Snca)1Slab
• Genetic Background: B6JOlaHsd.Cg-Tg(Camk2a-SNCA*)2Mgsp

behavior/neurological

impaired spatial learning ( J:219640 )

• in the Barnes maze, mice do not show a difference in latency to find the target hole across 5 days of testing, however they show an increase in the number of errors at days 3 and 4, indicating a partial learning impairment

abnormal spatial reference memory ( J:219640 )

• in the Barnes maze, mice show a deficit in their memory for the correct location of the target escape hole in the probe trial

abnormal response to novel object ( J:219640 )

• in the novel object recognition test, mice at 3 months of age spend less time exploring the novel object, which becomes more pronounced at 6 months of age

nervous system

alpha-synuclein inclusion body ( J:219640 )

• accumulation of the transgenic alpha-synuclein protein in the forebrain

taste/olfaction

impaired olfaction ( J:219640 )

• in the buried food test, mice show a slight but significant delay in the time spent to locate the food pellet at 1 month of age, but not at 3 or 4 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Lewy body dementia		DOID:12217	OMIM:127750	J:219640

Genotype
MGI:3758650

cx3

• Allelic Composition: Del(6Snca)1Slab/Del(6Snca)1Slab; Tg(Th-SNCA*)1Mgsp/0
• Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * CBA/Ca

behavior/neurological

decreased locomotor activity ( J:108310 )

• at 18 months, mice show significantly reduced spontaneous activity relative to non-transgenic controls

• at 18 months, mice exhibit an enhanced locomotor response to amphetamine treatment compared to controls

hematopoietic system

abnormal microglial cell morphology ( J:108310 )

• increased number of microglial cells associated with affected brain regions

immune system

abnormal microglial cell morphology ( J:108310 )

• increased number of microglial cells associated with affected brain regions

brain inflammation ( J:108310 )

nervous system

abnormal microglial cell morphology ( J:108310 )

• increased number of microglial cells associated with affected brain regions

brain inflammation ( J:108310 )

abnormal dopaminergic neuron morphology ( J:108310 )

• at 12-14 months of age, neurons show pathological changes including dense, shrunken perikarya, beaded or dystrophic processes, as well as perinuclear or very localized inclusions

• deep inclusions are observed in cytoplasm of dopaminergic neurons

• granular deposits and vacuolation of the cytoplasm are detected in older mice

abnormal axon morphology ( J:108310 )

• dopaminergic axons in the striatum appear with focal varicose swellings and seem to have larger diameters than littermate controls

alpha-synuclein inclusion body ( J:108310 )

• mutant human alpha-synuclein protein accumulates in inclusion-like structures in substatia nigra and olfactory bulb at all ages studied

• by 3 months, alpha-synuclein protein accumulates in the somatodendritic compartment

homeostasis/metabolism

decreased dopamine level ( J:108310 )

• in anterior striatum, dopamine (DA) levels are reduced by ~30% at time points later than 1 month of age; this is paralleled by a 30% reduction in the DA metabolite homovanillic acid