Pts Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Pts
6-pyruvoyl-tetrahydropterin synthase
MGI:1338783

26 phenotypes from 3 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Pts^{tm1b(EUCOMM)Wtsi}/Pts⁺ C57BL/6N-Pts^{tm1b(EUCOMM)Wtsi}/H	increased large unstained cell number	J:211773
Pts^{tm1b(EUCOMM)Wtsi}/Pts^{tm1b(EUCOMM)Wtsi} C57BL/6N-Pts^{tm1b(EUCOMM)Wtsi}/H	preweaning lethality, complete penetrance	J:211773
Pts^tm1Ich/Pts^tm1Ich B6.129X1-Pts^tm1Ich	postnatal lethality, complete penetrance	J:84764
Pts^tm1Ich/Pts^tm1Ich involves: 129X1/SvJ * C57BL/6J	abnormal biopterin level	J:84764
	abnormal neopterin level	J:84764
	abnormal nervous system physiology	J:84764
	decreased dopamine level	J:84764
	decreased heart rate	J:84764
	decreased noradrenaline level	J:84764
	decreased serotonin level	J:84764
	increased phenylalanine level	J:84764
	postnatal growth retardation	J:84764
	postnatal lethality, complete penetrance	J:84764
Pts^tm1Thny/Pts^tm1Thny involves: 129/Sv * C57BL/6	abnormal biopterin level	J:84533
	abnormal circulating amino acid level	J:84533
	abnormal dopamine level	J:84533
	abnormal neopterin level	J:84533
	abnormal serotonin level	J:84533
	abnormal sexual maturation	J:84533
	alopecia	J:84533
	decreased locomotor activity	J:84533
	diluted coat color	J:84533
	dystonia	J:84533
	increased salivation	J:84533
	neonatal lethality, incomplete penetrance	J:84533
	no swallowing reflex	J:84533
	postnatal growth retardation	J:84533
	postnatal lethality, incomplete penetrance	J:84533
	premature death	J:84533
	tremors	J:84533

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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