Phenotypes Associated with This Genotype

Genotype
MGI:2672965

• Allelic Composition: Pts^tm1Thny/Pts^tm1Thny
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

premature death ( J:84533 )

• survived no longer than 40 days after medium dose therapy

neonatal lethality, incomplete penetrance ( J:84533 )

• with no therapy, most dead within hours after birth, incomplete penetrance

postnatal lethality, incomplete penetrance ( J:84533 )

• approximately 15% survived neonatal period, but were dead by 7 days, with no therapy

• survived no longer than 3 weeks on low dose therapy

pigmentation

diluted coat color ( J:84533 )

• if survived, regardless of therapy

behavior/neurological

no swallowing reflex ( J:84533 )

• if survived, regardless of therapy

dystonia ( J:84533 )

• if survived, regardless of therapy

tremors ( J:84533 )

• if survived, regardless of therapy

decreased locomotor activity ( J:84533 )

• if survived, regardless of therapy

endocrine/exocrine glands

increased salivation ( J:84533 )

• if survived, regardless of therapy

growth/size/body

postnatal growth retardation ( J:84533 )

• if survived, regardless of treatment

homeostasis/metabolism

increased salivation ( J:84533 )

• if survived, regardless of therapy

abnormal circulating amino acid level ( J:84533 )

• phenylalaninemia with no, low and medium dose therapy

abnormal dopamine level ( J:84533 )

• decreased in brain, regardless of therapy

abnormal biopterin level ( J:84533 )

• decreased in liver and brain with no and low dose therapy

abnormal neopterin level ( J:84533 )

• elevated in liver and brain, regardless of therapy

abnormal serotonin level ( J:84533 )

• decreased in brain, severely on no and low dose therapy, 50% of normal on medium and high dose therapy

reproductive system

abnormal sexual maturation ( J:84533 )

• absent, if survived, regardless of therapy

digestive/alimentary system

increased salivation ( J:84533 )

• if survived, regardless of therapy

muscle

dystonia ( J:84533 )

• if survived, regardless of therapy

integument

diluted coat color ( J:84533 )

• if survived, regardless of therapy

alopecia ( J:84533 )

• if survived, regardless of therapy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
BH4-deficient hyperphenylalaninemia A		DOID:0090106	OMIM:261640	J:84533