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Phenotypes Associated with This Genotype
Genotype
MGI:3722379
Allelic
Composition
Tg(Prnp-MAPT*P301L)JNPL3Hlmc/?
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Prnp-MAPT*P301L)JNPL3Hlmc mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• within 3-4 weeks of phenotype onset, mice become moribund

growth/size/body
• affected animals show decrease in body weight
• observed in end-stage animals

behavior/neurological
• affected mice display reduction in grooming behavior
• at 4.5 months of age, F2 generation mice hold limbs in crossed position rather than extending them when lifted by the tail, and exhibit spontaneous back paw clenching while standing
• at 6.5 months of age, F1 generation mice hold limbs in crossed position rather than extending them when lifted by the tail, and exhibit spontaneous back paw clenching while standing
• affected mice fall after grasping rope briefly in hang tests
• after phenotype onset, weakness spreads to all limbs
• affected mice fall after grasping rope briefly in hang tests
• after phenotype onset, mice exhibit dystonic posturing
• within 2 weeks of phenotype onset (occurring by 10 months of age), mice cannot ambulate
• affected mice display reduction in vocalization

nervous system
• NFT are found in diencephalon, brainstem, cerebellar nuclei, and spinal cord, with 'pre-tangle' pathology observed in cortex neurons, hippocampus, and basal ganglia
• fibrillary gliosis in anterior horns of spinal cord is seen
• gliosis occurs in brainstem, diencephalon, and basal telencephalon
• motor neuron counts in spinal cord are reduced ~48% from control values
• cranial nerve nuclei degeneration, including motor nucleus of trigemminal nerve and hypoglossal nerve is observed

muscle
• sarcomeres are disorganized
• fibers are found in groups of small, acutely angled fibers, indicating neurogenic atrophy
• fibers have increased glycogen and lipofuscin, and redundant basement membranes

immune system
• most mice develop eye irritation and have difficulty in opening their eyes

vision/eye
• most mice develop eye irritation and have difficulty in opening their eyes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
frontotemporal dementia DOID:9255 OMIM:600274
OMIM:600795
J:63887


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory