Phenotypes Associated with This Genotype

Genotype
MGI:2669893

• Allelic Composition: Pts^tm1Ich/Pts^tm1Ich
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:84764 )

• 100% of mortality within the first 2 days of life

• repeated injections of BH4 allow for survival up to P7

cardiovascular system

decreased heart rate ( J:84764 )

• 36% fewer beats per minute than wild-type

homeostasis/metabolism

increased phenylalanine level ( J:84764 )

• accumulation of phenylalanine in the brain and liver tissues in mice where survival is prolonged by BH4 treatment

decreased dopamine level ( J:84764 )

decreased noradrenaline level ( J:84764 )

• reduced levels in the brain

abnormal biopterin level ( J:84764 )

• decreased biopterin levels in the brain

abnormal neopterin level ( J:84764 )

• increased neopterin levels in the brain

decreased serotonin level ( J:84764 )

• reduced levels in the brain

nervous system

abnormal nervous system physiology ( J:84764 )

• peripheral nervous system function is impaired

• nerve fibers but not cell bodies of dopaminergic and noradrenergic neurons show reduced expression of tyrosine hydroxylase

• sympathetic nerve terminals in the kidney have reduced levels of tyrosine hydroxylase

growth/size/body

postnatal growth retardation ( J:84764 )

• in mice given repeated BH4 injections

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
BH4-deficient hyperphenylalaninemia A		DOID:0090106	OMIM:261640	J:84764