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Phenotypes Associated with This Genotype
Genotype
MGI:3822800
Allelic
Composition
Phyhtm1Safe/Phyhtm1Safe
Genetic
Background
involves: 129P2/OlaHsd * 129X1/SvJ * Black Swiss * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phyhtm1Safe mutation (0 available); any Phyh mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• when fed a 0.25% phytol diet, plasma phytanic acid levels are increased to greater than 1 mmol/L unlike in similalrly treated wild-type mice
• when fed a 0.25% phytol diet, plasma total fatty acid levels are decreased compared to in wild-type mice
• when fed a 0.25% phytol diet
• when fed a 0.25% phytol diet
• when fed a 0.25% phytol diet
• when fed a 0.25% phytol diet for 3 weeks
• when fed a 0.25% phytol diet for 3 weeks
• when fed a diet high in phytol, mice exhibit hepatic lipidosis unlike similarly treated wild-type mice

nervous system
• when fed a 0.1% phytol diet, mice exhibit focal reduced Purkinje cell numbers in the cerebellar Purkinje cell layer unlike in similarly treated wild-type mice
• when fed a 0.25% phytol diet, Purkinje cell loss is severe with only some foci of surviving Purkinje cells that exhibit abnormally truncated arborization unlike in similarly treated wild-type mice
• when fed a diet high in phytol, mice exhibit peripheral neuropathy unlike similarly treated wild-type mice
• when fed a 0.25% phytol diet, astrocytosis is observed in the inferior colliculus, thalamus and occasionally in the granular layer of the cerebellum unlike in similarly treated wild-type mice
• when fed a diet high in phytol, mice exhibit increased latency in the compound muscle action potentials unlike similarly treated wild-type mice
• when fed a diet high in phytol, mice exhibit decreased motor nerve conduction velocity unlike similarly treated wild-type mice

behavior/neurological
• when fed a diet high in phytol
• when fed a diet high in phytol, mice fail to exhibit a trunk curl observed in mice fed a normal diet
• when fed a diet high in phytol, mice exhibit unsteady gait with strongly reduced paw print area for both fore- and hindpaws and reduced base of support for the hindpaws compared to in similarly treated wild-type mice

liver/biliary system
• when fed a 0.25% phytol diet
• when fed a phytol diet, mice develop microvesicular steatosis (0.1% phytol) and macrovesicular steatosis (0.25% phytol) unlike similarly treated wild-type
• when fed a 0.25% phytol diet, mice exhibit hepatocyte degeneration and inflammatory infiltrates unlike similarly treated wild-type mice

adipose tissue
• when fed a 0.25% phytol diet, mice have almost no white fat

reproductive system
• when fed a 0.1% phytol diet for 6 weeks, mice exhibit a loss of spermatogonia
• when fed a 0.25% phytol diet for 3 weeks, mice exhibit a severe loss of spermatogonia

growth/size/body
• when fed a 0.25% phytol diet, body weight is decreased 25% in males and 16% in females

immune system
• when fed a 0.25% phytol diet

Mouse Models of Human Disease
OMIM ID Ref(s)
Refsum Disease, Classic 266500 J:142512


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
07/19/2016
MGI 6.04
The Jackson Laboratory