Phenotypes Associated with This Genotype

Genotype
MGI:3707547

• Allelic Composition: Lrp8^tm1Her/Lrp8^tm1Her; Vldlr^tm1Her/Vldlr^tm1Her
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

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

mortality/aging

lethality at weaning, complete penetrance ( J:55691 )

• failure to thrive evident by 10 days of age

• mice died around 20 days of age

behavior/neurological

tremors ( J:55691 )

• observed around 13 to 15 days of age

ataxia ( J:55691 )

• progressive ataxia noticeable around 13 to 15 days of age

abnormal gait ( J:55691 )

• wide gait

• often flipped onto backs when attempting to walk

paralysis ( J:55691 )

• progressive limb paralysis developed between 16 and 20 days of age

growth/size/body

decreased body size ( J:55691 )

• clearly evident by 20 days of age

nervous system

abnormal brain development ( J:55691 )

• prominent, abnormal aggregates of Purkinje cells and cortical neurons evident

• cortical layering disrupted, with layers no longer distinguishable

abnormal hippocampus development ( J:55691 )

• hippocampal neurons scattered with little distinguishable pattern

abnormal cortical marginal zone morphology ( J:105699 )

• at P21, the normally cell-free layer 1 or marginal zone is infiltrated

abnormal cerebellum development ( J:55691 )

• cerebellum present only in rudimentary form

decreased brain size ( J:55691 )

• brains smaller than normal, especially apparent for the cerebellum

abnormal hippocampus morphology ( J:105699 )

• at P21, mice display a striking disorganization of the entire hippocampal region with a more prominent splitting of CA1, CA3 and dentate gyrus regions

abnormal dentate gyrus morphology ( J:105699 )

• at P21, granule cells do not form a tightly packed layer, and calbindin-labelled cells are scattered throughout the granule-cell population

disorganized cerebral cortex lamination ( J:105699 )

• mice display a complete disruption of cortical layering at P21

abnormal cerebellar Purkinje cell layer ( J:105699 )

• ectopic Purkinje cells are located below an outer layer of granule cells

small cerebellum ( J:55691 )

• cerebellum is severely reduced in size