Phenotypes associated with this allele

• Allele Symbol: Pah^enu2
• Allele Name: phenylalanine hydroxylase enu 2
• Allele ID: MGI:1857272
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pah^enu2/Pah^enu2	BTBR-Pah^enu2/J	MGI:5300789
hm2	Pah^enu2/Pah^enu2	involves: BTBR	MGI:3587815
ht3	Pah^enu1/Pah^enu2	involves: 101 * C3H * BTBR	MGI:3587793

Genotype
MGI:5300789

hm1

• Allelic Composition: Pah^enu2/Pah^enu2
• Genetic Background: BTBR-Pah^enu2/J

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

homeostasis/metabolism

increased phenylalanine level ( J:178269 )

• mutants exhibit an increase in phenylalanine concentration in the cerebral cortex

abnormal enzyme/coenzyme level ( J:178269 )

• the cerebral cortex exhibits increased NADPH oxidase activity

nervous system

abnormal cerebral cortex morphology ( J:178269 )

• mutants exhibit an increase in phenylalanine concentration in the cerebral cortex

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
phenylketonuria		DOID:9281	OMIM:261600	J:178269

Genotype
MGI:3587815

hm2

• Allelic Composition: Pah^enu2/Pah^enu2
• Genetic Background: involves: BTBR

homeostasis/metabolism

increased circulating phenylalanine level ( J:13320 )

• serum phenylalanine levels elevated 10-20X on a normal diet

decreased serotonin level ( J:89662 )

• reduced 70% in the brain

abnormal urine homeostasis ( J:13320 )

• phenylketones in urine greatly elevated

abnormal response/metabolism to endogenous compounds ( J:13320 )

• animals sicken after a few days on elevated phenylalanine (in drinking water)

growth/size/body

microcephaly ( J:13320 )

• small heads

postnatal growth retardation ( J:13320 , J:66447 )

• body weights diverged from controls starting at week 1 and continuing through week 7 (J:66447)

• weight divergence as much as 30% (J:66447)

behavior/neurological

abnormal learning/memory/conditioning ( J:56815 )

• absence of latent learning

abnormal olfactory discrimination memory ( J:56815 )

• odor discrimination learning was normal but reverse descrimination training was deficient

impaired balance ( J:13320 )

• tend to topple over while grooming themselves

impaired swimming ( J:13320 )

• uncoordinated in swim tests

abnormal sensory capabilities/reflexes/nociception ( J:13320 )

• appear to be less alert

pigmentation

hypopigmentation ( J:13320 )

• beginning at 2 weeks and worsening until 5-6 weeks of age

reproductive system

decreased litter size ( J:13320 )

• average litter size at birth normal but pups die within a few hours

• survival improves when cross fostered to a "wild-type" mother

renal/urinary system

abnormal urine homeostasis ( J:13320 )

• phenylketones in urine greatly elevated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
phenylketonuria		DOID:9281	OMIM:261600	J:38411

Genotype
MGI:3587793

ht3

• 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