Phenotypes associated with this allele

• Allele Symbol: Pah^enu1
• Allele Name: phenylalanine hydroxylase enu 1
• Allele ID: MGI:1857271
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pah^enu1/Pah^enu1	involves: 101 * C3H	MGI:3587792
ht2	Pah^enu1/Pah^enu2	involves: 101 * C3H * BTBR	MGI:3587793

Genotype
MGI:3587792

hm1

• Allelic Composition: Pah^enu1/Pah^enu1
• Genetic Background: involves: 101 * C3H

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

homeostasis/metabolism

abnormal circulating amino acid level ( J:10355 , J:62365 )

• plasma phenylalanine levels near control levels on a normal diet (J:10355)

• IP injection causes a 5X greater increase in plasma phenylalanine that takes 6hr rather than 2 hr to return to normal (J:10355)

reproductive system

decreased litter size ( J:62365 )

• slightly reduced litter size

• small drop in number of pups surviving to weaning

behavior/neurological

behavior/neurological phenotype ( J:62365 )

N • learning and short-term memory are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	phenylketonuria	DOID:9281	OMIM:261600	J:38411

Genotype
MGI:3587793

ht2

• Allelic Composition: Pah^enu1/Pah^enu2
• Genetic Background: involves: 101 * C3H * BTBR

homeostasis/metabolism

abnormal circulating amino acid level ( J:62365 )

• plasma phenylalanine levels near control levels on a normal diet

• IP injection causes a increase in plasma phenylalanine that slower to return to normal

reproductive system

decreased litter size ( J:62365 )

• slightly reduced litter size

• small drop in number of pups surviving to weaning

behavior/neurological

behavior/neurological phenotype ( J:62365 )

N • learning and short-term memory are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	phenylketonuria	DOID:9281	OMIM:261600	J:62365