Phenotypes Associated with This Genotype

Genotype
MGI:4460013

• Allelic Composition: Avil^tm2(cre)Fawa/Avil⁺; Pik3c3^tm1Fawa/Pik3c3^tm1Fawa
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

postnatal lethality, complete penetrance ( J:160568 )

• all mice die within 2 weeks of age

nervous system

increased neuron apoptosis ( J:160568 )

• at P5 and P9

abnormal sensory neuron morphology ( J:160568 )

• at P9, sensory neurons exhibit an increase in lysosome-like organelles unlike wild-type cells

• sensory neurons contain numerous large vacuoles unlike wild-type cells

decreased sensory neuron number ( J:160568 )

• at P5, 27% of sensory neurons are lost compared to in wild-type mice

• at P5 and P6, the numbers of TrkB+ and TrkC+ neurons are reduced compared to in wild-type mice

• at P9, only 44% of sensory neurons remain compared to in wild-type mice

• at P9, the numbers of TrkB+ and TrkC+ neurons are reduced compared to in wild-type mice

• at P9, the number of cRet+ neurons is moderately reduced compared to in wild-type mice

• during the early postnatal period, large-diameter mechanosensory and proprioceptive sensory neurons are lost unlike in wild-type mice

abnormal proprioceptive neuron morphology ( J:160568 )

• during the early postnatal period, large-diameter mechanosensory and proprioceptive sensory neurons are lost unlike in wild-type mice

neurodegeneration ( J:160568 )

• at P5, mice exhibit rapid degeneration of mature sensory neuron unlike wild-type mice

• during the early postnatal period, large-diameter mechanosensory and proprioceptive sensory neurons are lost unlike in wild-type mice

axon degeneration ( J:160568 )

• at P9, proprioceptive sensory axon projections to the ventral spinal cord are almost completely degenerated unlike in wild-type mice

• touch sensory innervations of layers III/IV are reduced compared to in wild-type mice

• large diameter myelinated axons exhibit degeneration unlike in wild-type mice

• however, small diameter unmyelinated axons are intact

behavior/neurological

impaired coordination ( J:160568 )

• at P5 to P6

abnormal posture ( J:160568 )

• at P5 to P6, mice exhibit difficulty in maintaining body posture unlike wild-type mice

hindlimb paralysis ( J:160568 )

• at P5 to P6, mice begin to drag their hindlimbs unlike wild-type mice

cellular

increased neuron apoptosis ( J:160568 )

• at P5 and P9