Phenotypes Associated with This Genotype

Genotype
MGI:3839946

• Allelic Composition: En1^tm1Gld/En1⁺; En2^tm1Alj/En2^tm1Alj
• Genetic Background: involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster

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

nervous system

loss of dopaminergic neurons ( J:115270 )

• loss of dopaminergic neurons specifically in the substantia nigra pars compacta starting after P0 and continuing until 3 months after birth

• loss is due to apoptosis, not conversion to another cell fate

decreased neurotransmitter release ( J:115270 )

• decreased in the release of dopamine from striatal slices following stimulation of the caudate putamen

• however, no defect in release is seen in the nucleus accumbens

behavior/neurological

abnormal behavior ( J:115270 )

• mice freeze more frequently while swimming compared to En2 null littermate controls

decreased food intake ( J:115270 )

• between 5 and 11 weeks of age, mice consume less food per day compared to En2 null littermate controls

decreased grip strength ( J:115270 )

• decreased grip strength in an inverted grid assay compared to En2 null littermate controls at 8 months of age but not at 18 months of age

• however, at 18 months of age mice took fewer steps on the grid compared to En2 null littermate controls

decreased locomotor activity ( J:115270 )

• decrease in forward locomotion in an open field at 18 months of age but not at 8 months of age compared to En2 null littermate controls

growth/size/body

slow postnatal weight gain ( J:115270 )

• beginning around 5 to 6 weeks of age

homeostasis/metabolism

decreased dopamine level ( J:115270 )

• in the striatum

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:115270