Phenotypes Associated with This Genotype

Genotype
MGI:6715269

• Allelic Composition: Pah^em1Skym/Pah^em1Skym
• Genetic Background: C57BL/6J-Pah^em1Skym

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

behavior/neurological

abnormal nest building behavior ( J:305392 )

• mice exhibit decreased nest building

growth/size/body

decreased body weight ( J:305392 )

homeostasis/metabolism

abnormal amino acid level ( J:305392 )

• mean tyrosine level in the brain at 6 months of age is increased

decreased circulating tyrosine level ( J:305392 )

• tyrosine levels are decreased at 2, 3, 4, 5, and 6 months of age

increased phenylalanine level ( J:305392 )

• brains contain increased levels of phenylalanine at 6 months of age

increased circulating phenylalanine level ( J:305392 )

• phenylalanine levels are increased at 2, 3, 4, 5, and 6 months of age

decreased circulating cholesterol level ( J:305392 )

• mean cholesterol level is lower at 2, 3.5, 4.5, 5.5, and 6 months of age

decreased circulating HDL cholesterol level ( J:305392 )

• HDL level is lower at 2, 3.5, 4.5, 5.5, and 6 months of age

decreased circulating LDL cholesterol level ( J:305392 )

• LDL level is lower at 2, 3.5, 4.5, 5.5, and 6 months of age

decreased nervous system dopamine level ( J:305392 )

• in the brain

decreased noradrenaline level ( J:305392 )

• in the brain

decreased serotonin level ( J:305392 )

• in the brain

integument

reduced hair shaft melanin granule number ( J:305392 )

• hair shafts contain less melanin

diluted coat color ( J:305392 )

• 6 of 7 mice exhibit a light brown hair coat and 1 of 7 mice have a brown coat compared to dark brown hair coat of heterozygotes, indicating hypopigmented hair coat

nervous system

abnormal brain morphology ( J:305392 )

• brain shows increased level of phenylalanine and tyrosine at 6 months of age

decreased brain weight ( J:305392 )

abnormal corpus callosum morphology ( J:305392 )

• the corpus callosum exhibits reduced cell density, with decreased number of glial cells

dysmyelination ( J:305392 )

• mice show lower brain myelin density at 6 months of age, indicating hypomyelination

abnormal synaptic neurotransmitter level ( J:305392 )

• neurotransmitters including dopamine, serotonin, norepinephrine, L-DOPA, 5-hydroxyindoleacetic acid (5-HIAA), homovanillic acid, and 3,4-dihydroxyphenylacetic acid (DOPAC) in brains are decreased

pigmentation

reduced hair shaft melanin granule number ( J:305392 )

• hair shafts contain less melanin

diluted coat color ( J:305392 )

• 6 of 7 mice exhibit a light brown hair coat and 1 of 7 mice have a brown coat compared to dark brown hair coat of heterozygotes, indicating hypopigmented hair coat

vision/eye

abnormal cornea morphology ( J:305392 )

• 1 of 7 mice show corneal edema, ulceration, and neovascularization

cataract ( J:305392 )

• all mice at 2.5-6 months of age exhibit cataract characterized by bladder cell and Morgagni globule formation involving either the peripheral or complete lens; grade of ocular pathology is higher than in heterozygous mice

microphthalmia ( J:305392 )

• 6 of 7 mice show right microphthalmia at 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
phenylketonuria		DOID:9281	OMIM:261600	J:305392