Phenotypes Associated with This Genotype

Genotype
MGI:3587815

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

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

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