Phenotypes Associated with This Genotype

Genotype
MGI:5014491

• Allelic Composition: Fig4^plt1/Fig4^plt1; Tg(ACTB-Fig4*I41T)705Mm/0
• Genetic Background: involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:173446 )

• survival is increased to 3?6 months compared to from 1?2 months in Fig4 null mice not carrying the transgene

nervous system

nervous system phenotype ( J:173446 )

N • unlike in null mice not carrying the transgene, myelin sheath thinning is not seen

abnormal brain morphology ( J:173446 )

• intermediate level of autophagic inclusion bodies

hydrocephaly ( J:173446 )

• high pressure hydrocephalus is indicated by the compression of the cerebellum and hippocampus

enlarged lateral ventricles ( J:173446 )

astrocytosis ( J:173446 )

• intermediate level compared to null mice not carrying the transgene

neurodegeneration ( J:173446 )

• intermediate level of degeneration compared to null mice not carrying the transgene

• degeneration of the cerebellar nuclei

spongiform encephalopathy ( J:173446 )

decreased nerve conduction velocity ( J:173446 )

• 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

domed cranium ( J:173446 )

integument

diluted coat color ( J:173446 )

pigmentation

diluted coat color ( J:173446 )

hypopigmentation ( J:173446 )

skeleton

domed cranium ( J:173446 )

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