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Phenotypes Associated with This Genotype
Genotype
MGI:5749268
Allelic
Composition
Zfyve26tm1.1Cahb/Zfyve26tm1.1Cahb
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zfyve26tm1.1Cahb mutation (0 available); any Zfyve26 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal gait of a Zfyve26tm1.1Cahb/Zfyve26tm1.1Cahb mouse walking on a beam

growth/size/body
• although normal up to 8 months of age, body weight is reduced by 17% at 16 months of age

behavior/neurological
N
• no obvious learning and memory deficits noted in the Morris water maze at 5 months of age
• progressive spastic and ataxic gait disorder
• progressive decline in beam walking performance, starting at 8 months of age
• significantly impaired motor coordination at 16 months, when homozygotes fall off the beam in about 1 of 3 trials
• at 16 months of age
• progressive gait disorder and motor deficits starting at 12 months of age, as quantified by the foot-base-angle at toe-off positions of the hindpaws
• at 16 months of age, the foot-base-angle is reduced to ~50 degrees versus ~75 degrees in wild-type mice

nervous system
• after 4 days in culture, the length of outgrowing axons as well as the bidirectional axonal transport rate of mitochondria are significantly decreased in mutant embryonic motoneurons
• however, axonal branching is not altered in cultured motoneurons
• significantly reduced brain weight at 16 months of age
• Purkinje cells severely reduced to 26% of wild-type controls at 16 months of age, consistent with the ataxic gait disorder
• significantly reduced brain size at 16 months of age
• however, normal brain structures and weight at 2 months of age
• no thinning of the corpus callosum at 16 months of age
• marked astrogliosis in the deep layers V and VI of the motor cortex and in the cerebellum at 16 months, but not at 2 months of age
• clear activation of astrocytes in the spinal cord (mainly in the white matter) at 16 months, but not at 2 months of age
• however, no astrogliosis observed in the hippocampus or the olfactory bulb
• significantly reduced number of neurons in deep layers V and VI of the motor cortex at 16 months of age
• however, normal number of neurons in the motor cortex at 2 and 8 months of age
• no neurodegeneration observed in the hippocampus or the olfactory bulb
• axonal degeneration in the corticospinal tract at 8 months, but not at 2 months of age
• large diameter axons are almost absent from horizontal lumbar spinal cord sections at 16 months of age

renal/urinary system
• enlarged bladder at post mortem after 16 months of age
• dysfunction of the bladder at 16 months of age

cellular
• pathological accumulations of autofluorescent, electron-dense material in lysosomal structures of mutant neurons, preceding degeneration of cortical motoneurons and Purkinje cells
• after 4 days in culture, the length of outgrowing axons as well as the bidirectional axonal transport rate of mitochondria are significantly decreased in mutant embryonic motoneurons
• however, axonal branching is not altered in cultured motoneurons
• altered composition/function of lysosomes
• increased enzymatic activities of lysosomal enzymes beta-hexosaminidase and beta-galactosidase in brain at 16 months, but not at 2 months of age

skeleton
• kyphosis of the spine at 16 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary spastic paraplegia 15 DOID:0110768 OMIM:270700
J:223127


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
11/13/2018
MGI 6.13
The Jackson Laboratory