Phenotypes associated with this allele

• Allele Symbol: Tg(Nfh/lacZ)44AApt
• Allele Name: transgene insertion 44A, Alan Peterson
• Allele ID: MGI:2182128
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(Nfh/lacZ)44AApt/0	involves: C3H * C57BL/6	MGI:3694628

Genotype
MGI:3694628

tg1

• Allelic Composition: Tg(Nfh/lacZ)44AApt/0
• Genetic Background: involves: C3H * C57BL/6

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

nervous system

abnormal neuron morphology ( J:76717 )

• neurons throughout the CNS display large filamentous aggregates (inclusions), resembling Lewy bodies

• nearly all hippocampal CA1 neurons contain inclusions (type I - devoid of cellular organelles)

abnormal Purkinje cell morphology ( J:76717 )

• nearly all Purkinje cells contain inclusions (Type II - containing trapped cellular organelles)

decreased motor neuron number ( J:76723 )

• in 14-month old mice, number of myelinated fibers in ventral roots is reduced compared to controls (6208 vs 8134)

abnormal axon morphology ( J:76723 )

• in CNS and PNS of mature transgenic mice, axons are of lower caliber than in controls; few if any have caliber typical of large motor neurons in ventral roots

• at P5, axon calibers are noticeably smaller than normal

abnormal spinal cord interneuron morphology ( J:76723 )

• perikarya (cell bodies) of neurons display large filamentous aggregates that increase in volume with age

• by P5, they displace cytoplasm and organelles into two thin shells, one applied to the cytoplasmic membrane, the other to the nuclear membrane

• filaments are densely packed in most regions, but some contain mitochondria and other organelles trapped within network

• average diameter is 9.2 nm with interfilament distance of ~26 nm

• motor interneurons display filamentous aggregates

neuron degeneration ( J:76723 )

• degenerating fibers are encountered with significantly higher frequency than in non-transgenic mice

Purkinje cell degeneration ( J:76717 )

• Purkinje cells with type II inclusions begin to degenerate at ~1 year of age and are eliminated by 18 months of age

abnormal ventral spinal root morphology ( J:76723 )

• ventral spinal roots of mice from P5 to 3 months of age have few neurofilament profiles

• axonal neurofilaments are rarely seen in any tract or nerve

• axonal microtubules are densely packed and more numerous than in wild-type axons

• ventral roots exhibit increased inter-fiber spacing with age, and usually contain one or two degenerating fibers

hypermyelination ( J:76723 )

• in peripheral nervous system (PNS) of 3 month old mice, myelin sheaths are much thicker (hypermyelination)

vision/eye

abnormal retina neuronal layer morphology ( J:112938 )

• levels of NF-J and alpha-internexin are reduced to less than 25% of wild-type

• in retina containing the cell bodies of retinal ganglion cells, accumulations of NF-L and alpha-internexin protein develop