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Phenotypes Associated with This Genotype
Genotype
MGI:3717180
Allelic
Composition
Fig4plt1/Fig4plt1
Genetic
Background
involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die by 6 weeks (J:122737)
• juvenile lethality at 6-8 weeks of age (J:185989)

behavior/neurological
• severe movement disorder by 30 days of age
• by 30 days of age (J:185989)
• progressive loss of mobility
• at week 3
• mice have a 'swimming' gait

nervous system
• at 6 weeks, spinal motor neurons accumulates vacuoles prior to cell loss
• visible at week 1, mice exhibit neonatal degeneration in sensory and autonomic ganglia with loss of neurons in from layers 4 and 5 of the cortex, deep cerebellar nuclei, thalamus, pons and medulla
• mice exhibit fewer large-diameter myelinated axons
• sciatic nerve conduction velocity is slowed
• sciatic nerves have reduced amplitude of compound muscle action potential
• in deep layers of cortex, cerebellar nuclei, hippocampus, brainstem, and dorsal root ganglia
• reduced sciatic nerve myelination
• low abundance of myelin basic protein
• sciatic nerves have reduced amplitude of compound muscle action potential
• sciatic nerve conduction velocity is slowed (J:122737)
• sciatic nerve conduction velocity reduced to 50% of velocity in control mice (J:185989)

muscle

growth/size/body

hematopoietic system
• severe tremors develop 2 weeks after birth

immune system
• severe tremors develop 2 weeks after birth

pigmentation
• at P3 (J:122737)
• clumps of melanosomes are visible in the few remaining pigmented hair follicles

integument
• at P3 (J:122737)
• clumps of melanosomes are visible in the few remaining pigmented hair follicles
• pigment containing hair follicles are decreased in number

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 4J DOID:0110184 OMIM:611228
J:122737


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory