Phenotypes Associated with This Genotype

Genotype
MGI:2662490

• Allelic Composition: Cdk5r1^tm1Lht/Cdk5r1^tm1Lht; Cdk5r2^tm1Lht/Cdk5r2^tm1Lht
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:71181 )

• frequency of homozygous pups at birth is 2.8%, compared to expected 6.25%; mice do not survive past P0

• number of double homozygotes found at E18.5 is increased over numbers at birth

embryo

decreased embryo size ( J:71181 )

• at E18.5 mutant embryos are smaller than controls and at P0, pups appear runted

growth/size/body

decreased embryo size ( J:71181 )

• at E18.5 mutant embryos are smaller than controls and at P0, pups appear runted

nervous system

abnormal neuron differentiation ( J:71181 )

• axon tracts course through cortex aberrantly, oblique to the pial surface

abnormal cortical marginal zone morphology ( J:71181 )

• definition of marginal zone and cortical subplate has distorted definition

abnormal cortical plate morphology ( J:71181 )

• cortical plate is misplaced beneath superficial subplate structure

thin cortical plate ( J:71181 )

abnormal cerebellum development ( J:71181 )

absent cerebellar foliation ( J:71181 )

• complete lack of foliation at E18.5

abnormal cerebellum external granule cell layer morphology ( J:71181 )

• layer is thicker near germinal zone of rhombic lip

abnormal olfactory bulb development ( J:71181 )

• compact layer of mitral cells is absent at E18.5

• various fiber tracts show disrupted formation; medial lemniscus is intact, but other tracts aren't visible such as the solitary tract

• superior and inferior olivary nuclei are absent

abnormal dentate gyrus morphology ( J:71181 )

• indiscernible throughout entire hippocampal formation

abnormal hippocampus layer morphology ( J:71181 )

• diffuse laminar organization of CA pyramidal neurons with appearance of cell-free rifts between clusters of cells

abnormal cerebral cortex morphology ( J:71181 )

• cortex shows lamination defects and neuronal-positioning abnormalities

absent Purkinje cell layer ( J:71181 )

• this layer is absent; Purkinje cells are clustered near posterior lobe of cerebellum at E18.5

small cerebellum ( J:71181 )

• cerebellum is smaller in size relative to wild-type littermates

abnormal motor neuron morphology ( J:71181 )

• motor neurons in spinal cord display pathological changes, including chromatolysis at E18.5

chromatolysis ( J:71181 )

• seen in some motor neurons at E18.5

behavior/neurological

unresponsive to tactile stimuli ( J:71181 )

• no response to clamp stimulation of tails at P0

weakness ( J:71181 )

• at P0, surviving double homozygotes show weakness of movement

cellular

abnormal neuron differentiation ( J:71181 )

• axon tracts course through cortex aberrantly, oblique to the pial surface