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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pnpla6tm1Mvc
targeted mutation 1, Moses V Chao
MGI:3040330
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Pnpla6tm1Mvc/Pnpla6tm1Mvc
Tg(Nes-cre)1Kln/0
involves: C57BL/6 * SJL MGI:3041706


Genotype
MGI:3041706
cn1
Allelic
Composition
Pnpla6tm1Mvc/Pnpla6tm1Mvc
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pnpla6tm1Mvc mutation (0 available); any Pnpla6 mutation (63 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit numerous axonal lesions in the corticospinal tract, especially in the major lateral tracts, unlike in wild-type mice
• axonal lesions are present in the lateral and ventral tracts at early ages and display Wallerian-like morphology unlike in wild-type mice
• in older mice, axons in the lumbar tracts are swollen unlike in wild-type mice
• at early ages, mice exhibit axonal lesions and in older mice the area of disordered structure becomes progressively larger unlike in wild-type mice
• disruption of the endoplasmic reticulum
• vacuolation of nerve cell bodies
• abnormal reticular aggregates
• at P18 to P19, mice exhibit axonal lesions in the gracile nucleus in the medulla oblongata unlike wild-type mice
• by 3 months, the axonal lesions are at least twice as numerous
• degenerative axonal lesion consist of dark-staining axons with dense bodies comprising multilamellar figures or ovoids, translucent intra-axonal vacuoles and cytoskeletal elements
• mice exhibit swollen axons that progressively increase in size
• hippocampal neuron degeneration

behavior/neurological
• impaired performance on rotarod at 6 months of age
• when tested at 1 month of age, performance was similar to wild-type
• mice exhibit progressive hind limb dysfunction including clenching of hind limb digits, inability to support lower body in a been walking test at 4 months, and abnormal movement in an open field test at 14 months unlike wild-type mice

homeostasis/metabolism
• at 1 to 3 months and 6 to 12 months, neural phosphatidylcholine levels are increased compared to in wild-type mice

growth/size/body





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory