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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Pah
phenylalanine hydroxylase
MGI:97473
46 phenotypes from 6 alleles in 7 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Pahem1(IMPC)Tcp/Pah+
C57BL/6NCrl-Pahem1(IMPC)Tcp/Tcp 		abnormal sternum morphology J:211773
decreased exploration in new environment J:211773
small spleen J:211773
Pahem1(IMPC)Tcp/Pahem1(IMPC)Tcp
C57BL/6NCrl-Pahem1(IMPC)Tcp/Tcp 		abnormal coat/hair pigmentation J:211773
abnormal cornea morphology J:211773
abnormal sternum morphology J:211773
female infertility J:211773
microphthalmia J:211773
small adrenal glands J:211773
Pahem1Skym/Pahem1Skym
C57BL/6J-Pahem1Skym 		abnormal amino acid level J:305392
abnormal brain morphology J:305392
abnormal cornea morphology J:305392
abnormal corpus callosum morphology J:305392
abnormal nest building behavior J:305392
abnormal synaptic neurotransmitter level J:305392
cataract J:305392
decreased body weight J:305392
decreased brain weight J:305392
decreased circulating cholesterol level J:305392
decreased circulating HDL cholesterol level J:305392
decreased circulating LDL cholesterol level J:305392
decreased circulating tyrosine level J:305392
decreased nervous system dopamine level J:305392
decreased noradrenaline level J:305392
decreased serotonin level J:305392
diluted coat color J:305392
dysmyelination J:305392
increased circulating phenylalanine level J:305392
increased phenylalanine level J:305392
microphthalmia J:305392
reduced hair shaft melanin granule number J:305392
Pahenu1/Pahenu1
involves: 101 * C3H 		abnormal circulating amino acid level J:10355, J:62365
normal behavior/neurological phenotype J:62365
decreased litter size J:62365
Pahenu1/Pahenu2
involves: 101 * C3H * BTBR 		abnormal circulating amino acid level J:62365
normal behavior/neurological phenotype J:62365
decreased litter size J:62365
Pahenu2/Pahenu2
BTBR-Pahenu2/J 		abnormal cerebral cortex morphology J:178269
abnormal enzyme/coenzyme level J:178269
increased phenylalanine level J:178269
Pahenu2/Pahenu2
involves: BTBR 		abnormal learning/memory/conditioning J:56815
abnormal olfactory discrimination memory J:56815
abnormal response/metabolism to endogenous compounds J:13320
abnormal sensory capabilities/reflexes/nociception J:13320
abnormal urine homeostasis J:13320
decreased litter size J:13320
decreased serotonin level J:89662
hypopigmentation J:13320
impaired balance J:13320
impaired swimming J:13320
increased circulating phenylalanine level J:13320
microcephaly J:13320
postnatal growth retardation J:13320, J:66447
Pahenu3/Pahenu3
involves: BTBR 		abnormal response/metabolism to endogenous compounds J:13320
abnormal sensory capabilities/reflexes/nociception J:13320
abnormal urine homeostasis J:13320
decreased litter size J:13320
hypopigmentation J:13320
impaired balance J:13320
impaired swimming J:13320
increased circulating phenylalanine level J:13320
microcephaly J:13320
postnatal growth retardation J:13320
Pahm1Btlr/Pahm1Btlr
C57BL/6J-Pahm1Btlr 		audiogenic seizures J:152890
decreased body size J:152890
diluted coat color J:152890
environmentally induced seizures J:152890
microphthalmia J:152890
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory