Phenotypes Associated with This Genotype

Genotype
MGI:6474005

• Allelic Composition: Gch1^em1Ypt/Gch1^em1Ypt
• Genetic Background: C57BL/6-Gch1^em1Ypt

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

mortality/aging

postnatal lethality, complete penetrance ( J:295169 )

• no pups survive more than 2 weeks

• mice treated with benserazide-levodopa show improvement in survival up to one month

prenatal lethality prior to heart atrial septation ( J:295169 )

• about 50% die between E11.5 to E15.5

growth/size/body

decreased body weight ( J:295169 )

• body weight is lower on P7

postnatal growth retardation ( J:295169 )

• growth retardation is seen after birth in live-born pups

slow postnatal weight gain ( J:295169 )

• poor weight gain is seen after birth in live-born pups

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:295169 )

• mice perform worse and fall earlier than wild-type mice in the hindlimb suspension test

impaired righting response ( J:295169 )

• P7 mice need more time to return to the prone position in the righting reflex test

limb grasping ( J:295169 )

• hindlimb clasping is seen when hung by the tail

abnormal posture ( J:295169 )

• pups exhibit abnormal walking posture

decreased locomotor activity ( J:295169 )

decreased vocalization ( J:295169 )

• pups call significantly less than wild-type mice when separated from mothers and the average duration per call is shorter

nervous system

abnormal brain morphology ( J:295169 )

• tetrahydrobiopterin levels are decreased in the brain

homeostasis/metabolism

increased phenylalanine level ( J:295169 )

• accumulation of phenylalanine in the liver and brain, which is more severe in the brain

decreased nervous system dopamine level ( J:295169 )

• dopamine is reduced in the brain at P7

• dopamine metabolites dihydroxyphenylacetic acid (DOPAC), 3-methoxytyramine (3-MT), and homovanillic acid (HVA) are reduced in the brain at P7

decreased noradrenaline level ( J:295169 )

• norepinephrine is reduced in the brain

decreased serotonin level ( J:295169 )

• serotonin is reduced in the brain

decreased brain tyrosine 3-monooxygenase activity ( J:295169 )

• tyrosine hydroxylase is undetectable in the striatum

liver/biliary system

abnormal liver morphology ( J:295169 )

• tetrahydrobiopterin levels are decreased in the liver

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
BH4-deficient hyperphenylalaninemia B		DOID:0112225	OMIM:233910	J:295169