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Phenotypes Associated with This Genotype
Genotype
MGI:3587815
Allelic
Composition
Pahenu2/Pahenu2
Genetic
Background
involves: BTBR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pahenu2 mutation (2 available); any Pah mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• serum phenylalanine levels elevated 10-20X on a normal diet (J:13320)
• serum phenylalanine levels elevated 10-20X on a normal diet (J:13320)
• reduced 70% in the brain (J:89662)
• reduced 70% in the brain (J:89662)
• phenylketones in urine greatly elevated (J:13320)
• phenylketones in urine greatly elevated (J:13320)
• animals sicken after a few days on elevated phenylalanine (in drinking water) (J:13320)
• animals sicken after a few days on elevated phenylalanine (in drinking water) (J:13320)

growth/size/body
• small heads (J:13320)
• small heads (J:13320)
• body weights diverged from controls starting at week 1 and continuing through week 7 (J:66447)
• weight divergence as much as 30% (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
• absence of latent learning (J:56815)
• absence of latent learning (J:56815)
• odor discrimination learning was normal but reverse descrimination training was deficient (J:56815)
• odor discrimination learning was normal but reverse descrimination training was deficient (J:56815)
• tend to topple over while grooming themselves (J:13320)
• tend to topple over while grooming themselves (J:13320)
• uncoordinated in swim tests (J:13320)
• uncoordinated in swim tests (J:13320)
• appear to be less alert (J:13320)
• appear to be less alert (J:13320)

pigmentation
• beginning at 2 weeks and worsening until 5-6 weeks of age (J:13320)
• beginning at 2 weeks and worsening until 5-6 weeks of age (J:13320)

reproductive system
• average litter size at birth normal but pups die within a few hours (J:13320)
• survival improves when cross fostered to a "wild-type" mother (J:13320)
• average litter size at birth normal but pups die within a few hours (J:13320)
• survival improves when cross fostered to a "wild-type" mother (J:13320)

renal/urinary system
• phenylketones in urine greatly elevated (J:13320)
• phenylketones in urine greatly elevated (J:13320)

Mouse Models of Human Disease
OMIM ID Ref(s)
Phenylketonuria; PKU 261600 J:38411


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory