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Phenotypes Associated with This Genotype
Genotype
MGI:5662254
Allelic
Composition
Ddhd2tm1Crv/Ddhd2tm1Crv
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ddhd2tm1Crv mutation (0 available); any Ddhd2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired performance in a Barnes maze
• impaired performance in a Barnes maze in the 2 wk post-test phase
• balance for a shorter time on a rotarod
• fall off the rotarod at lower speeds
• seen in both front and rear paws
• decrease in rearing behavior

nervous system
• 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
• lipid droplets in the brain are primarily found in neurons

homeostasis/metabolism
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/03/2022
MGI 6.21
The Jackson Laboratory