Phenotypes Associated with This Genotype

Genotype
MGI:3822800

• Allelic Composition: Phyh^tm1Safe/Phyh^tm1Safe
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * Black Swiss * FVB/N

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

cellular

abnormal spermatogonia morphology ( J:142512 )

♂ • 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

homeostasis/metabolism

abnormal blood homeostasis ( J:142512 )

• 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

abnormal circulating lipid level ( J:142512 )

• when fed a 0.25% phytol diet, plasma total fatty acid levels are decreased compared to in wild-type mice

decreased circulating cholesterol level ( J:142512 )

• when fed a 0.25% phytol diet

decreased circulating free fatty acids level ( J:142512 )

• when fed a 0.25% phytol diet

decreased circulating triglyceride level ( J:142512 )

• when fed a 0.25% phytol diet

increased circulating alanine transaminase level ( J:142512 )

• when fed a 0.25% phytol diet for 3 weeks

increased circulating amylase level ( J:142512 )

• when fed a 0.25% phytol diet for 3 weeks

lipidosis ( J:142512 )

• when fed a diet high in phytol, mice exhibit hepatic lipidosis unlike similarly treated wild-type mice

nervous system

decreased Purkinje cell number ( J:142512 )

• 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

abnormal nervous system physiology ( J:142512 )

• when fed a diet high in phytol, mice exhibit peripheral neuropathy unlike similarly treated wild-type mice

abnormal astrocyte physiology ( J:142512 )

• 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

abnormal action potential ( J:142512 )

• when fed a diet high in phytol, mice exhibit increased latency in the compound muscle action potentials unlike similarly treated wild-type mice

decreased nerve conduction velocity ( J:142512 )

• when fed a diet high in phytol, mice exhibit decreased motor nerve conduction velocity unlike similarly treated wild-type mice

behavior/neurological

ataxia ( J:142512 )

• when fed a diet high in phytol

trunk curl ( J:142512 )

• when fed a diet high in phytol, mice fail to exhibit a trunk curl observed in mice fed a normal diet

abnormal gait ( J:142512 )

• 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

liver inflammation ( J:142512 )

• when fed a 0.25% phytol diet

macrovesicular hepatic steatosis ( J:142512 )

• when fed a phytol diet, mice develop macrovesicular steatosis (0.25% phytol) unlike similarly treated wild-type

microvesicular hepatic steatosis ( J:142512 )

• when fed a phytol diet, mice develop microvesicular steatosis (0.1% phytol) unlike similarly treated wild-type

liver degeneration ( J:142512 )

• when fed a 0.25% phytol diet, mice exhibit hepatocyte degeneration and inflammatory infiltrates unlike similarly treated wild-type mice

adipose tissue

decreased white adipose tissue amount ( J:142512 )

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

reproductive system

abnormal spermatogonia morphology ( J:142512 )

♂ • 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

decreased body weight ( J:142512 )

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

immune system

liver inflammation ( J:142512 )

• when fed a 0.25% phytol diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Refsum disease		DOID:10582	OMIM:266500	J:142512