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Phenotypes Associated with This Genotype
Genotype
MGI:5014491
Allelic
Composition
Fig4plt1/Fig4plt1
Tg(ACTB-Fig4*I41T)705Mm/0
Genetic
Background
involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (33 available)
Tg(ACTB-Fig4*I41T)705Mm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survival is increased to 3?6 months compared to from 1?2 months in Fig4 null mice not carrying the transgene

nervous system
N
• unlike in null mice not carrying the transgene, myelin sheath thinning is not seen
• intermediate level of autophagic inclusion bodies
• high pressure hydrocephalus is indicated by the compression of the cerebellum and hippocampus
• intermediate level compared to null mice not carrying the transgene
• intermediate level of degeneration compared to null mice not carrying the transgene
• degeneration of the cerebellar nuclei
• reduced at 4 and 14 months of age in the sciatic nerve but not as much as in null mice not carrying the transgene

craniofacial

integument

pigmentation

skeleton

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 4J DOID:0110184 OMIM:611228
J:173446


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
08/06/2019
MGI 6.14
The Jackson Laboratory