Pfas Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Pfas
phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
MGI:2684864

26 phenotypes from 8 alleles in 8 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Pfas^em1(IMPC)J/Pfas⁺ C57BL/6NJ-Pfas^em1(IMPC)J/Mmjax	decreased circulating aspartate transaminase level	J:211773
Pfas^em1(IMPC)J/Pfas^em1(IMPC)J C57BL/6NJ-Pfas^em1(IMPC)J/Mmjax	preweaning lethality, complete penetrance	J:211773
Pfas^Sofa-2J/Pfas⁺ B6(Cg)-Pfas^Sofa-2J/GrsrJ	abnormal cranium morphology	J:223062
	abnormal eye morphology	J:223062
	abnormal transitional stage B cell morphology	J:223062
	alveolar process atrophy	J:223062
	anophthalmia	J:223062
	belly spot	J:194958, J:223062
	decreased body mass index	J:223062
	decreased bone mineral content	J:223062
	decreased cranium length	J:223062
	decreased lean body mass	J:223062
	decreased total body fat amount	J:223062
	domed cranium	J:223062
	microphthalmia	J:223062
	non-pigmented tail tip	J:223062
	premature cranial synchondrosis closure	J:223062
	short snout	J:194958, J:223062
Pfas^Sofa-3J/Pfas⁺ B6(129S7)-Pfas^Sofa-3J/GrsrJ	abnormal cranium morphology	J:223062
	abnormal eye morphology	J:223062
	abnormal interfrontal bone morphology	J:223062
	alveolar process atrophy	J:223062
	anophthalmia	J:223062
	belly spot	J:223062
	decreased bone mineral content	J:223062
	decreased cranium length	J:223062
	decreased lean body mass	J:223062
	decreased percent body fat/body weight	J:223062
	decreased total body fat amount	J:223062
	domed cranium	J:223062
	microphthalmia	J:223062
	non-pigmented tail tip	J:223062
	premature cranial synchondrosis closure	J:223062
	short snout	J:223062
Pfas^Sofa-4J/Pfas⁺ C57BL/6J-Pfas^Sofa-4J/GrsrJ	abnormal cranium morphology	J:223062
	abnormal eye morphology	J:223062
	abnormal interfrontal bone morphology	J:223062
	alveolar process atrophy	J:223062
	anophthalmia	J:223062
	belly spot	J:223062
	decreased body mass index	J:223062
	decreased cranium length	J:223062
	decreased lean body mass	J:223062
	decreased percent body fat/body weight	J:223062
	decreased total body fat amount	J:223062
	domed cranium	J:223062
	microphthalmia	J:223062
	non-pigmented tail tip	J:223062
	premature cranial synchondrosis closure	J:223062
	short snout	J:223062
Pfas^Sofa-5J/Pfas⁺ B6(129S1)-Pfas^Sofa-5J/GrsrJ	abnormal cranium morphology	J:223062
	abnormal eye morphology	J:223062
	abnormal interfrontal bone morphology	J:223062
	alveolar process atrophy	J:223062
	anophthalmia	J:223062
	belly spot	J:223062
	decreased bone mineral content	J:223062
	decreased cranium height	J:223062
	decreased cranium length	J:223062
	domed cranium	J:223062
	microphthalmia	J:223062
	non-pigmented tail tip	J:223062
	premature cranial synchondrosis closure	J:223062
	short maxilla	J:223062
	short snout	J:223062
Pfas^Sofa-6J/Pfas⁺ C57BL/6J-Pfas^Sofa-6J/GrsrJ	belly spot	J:223062
	non-pigmented tail tip	J:223062
	short snout	J:223062
Pfas^Sofa/Pfas⁺ B6(AKR)-Pfas^Sofa/GrsrJ	abnormal cranium morphology	J:223062
	abnormal eye morphology	J:223062
	abnormal interfrontal bone morphology	J:223062
	alveolar process atrophy	J:223062
	anophthalmia	J:223062
	belly spot	J:223062
	decreased body weight	J:223062
	decreased bone mineral content	J:223062
	decreased cranium length	J:223062
	decreased lean body mass	J:223062
	decreased total body fat amount	J:223062
	domed cranium	J:223062
	microphthalmia	J:223062
	non-pigmented tail tip	J:223062
	ocular hypertelorism	J:125614
	premature cranial synchondrosis closure	J:223062
	short snout	J:125614
	upturned snout	J:223062
Pfas^{Tg(Tyr)2307COve}/Pfas^{Tg(Tyr)2307COve} FVB/N-Pfas^{Tg(Tyr)2307COve}	embryonic lethality between implantation and somite formation, complete penetrance	J:175597

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