Phenotypes Associated with This Genotype

Genotype
MGI:5662254

• Allelic Composition: Ddhd2^tm1Crv/Ddhd2^tm1Crv
• Genetic Background: involves: C57BL/6

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

behavior/neurological

impaired spatial learning ( J:216446 )

• impaired performance in a Barnes maze

abnormal long-term spatial reference memory ( J:216446 )

• impaired performance in a Barnes maze in the 2 wk post-test phase

abnormal motor coordination/balance ( J:216446 )

impaired balance ( J:216446 )

• balance for a shorter time on a rotarod

impaired coordination ( J:216446 )

• fall off the rotarod at lower speeds

short stride length ( J:216446 )

• seen in both front and rear paws

decreased vertical activity ( J:216446 )

• decrease in rearing behavior

nervous system

abnormal brain morphology ( J:216446 )

• substantial accumulation of lipid droplets in brain tissue including the pons, mostly within the pontine central gray, and ventral to the corpus callosum in the septal nuclei

• accumulation is seen at 3 and 6-9 months of age

• lipid droplets are primarily found in neurons and are not seen in glial cells

abnormal neuron morphology ( J:216446 )

• lipid droplets in the brain are primarily found in neurons

homeostasis/metabolism

abnormal lipid level ( J:216446 )

• substantial accumulation of lipid droplets in brain tissue including the pons, mostly within the pontine central gray, and ventral to the corpus callosum in the septal nuclei

• accumulation is seen at 3 and 6-9 months of age

increased triglyceride level ( J:216446 )

• increase in levels of some lipid metabolites in the brain and spinal cord

• accumulation of triglycerides is seen in the brains of mice at 2 months but not 3 weeks of age

• a modest increase is also seen in white adipose tissue but not in the serum

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia 54		DOID:0110806	OMIM:615033	J:216446