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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Ass1
argininosuccinate synthetase 1
MGI:88090
40 phenotypes from 5 alleles in 9 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Ass1bar/Ass1bar
B6.BAR-Ass1bar 		abnormal Bergmann glial cell morphology J:165341
abnormal cerebellar granule cell migration J:165341
abnormal circulating amino acid level J:165341
abnormal enzyme/coenzyme activity J:165341
abnormal gait J:165341
abnormal hair follicle morphology J:165341
alopecia J:165341
decreased body length J:165341
decreased brain weight J:165341
epidermal hyperplasia J:165341
hyperkeratosis J:165341
increased circulating ammonia level J:165341
increased circulating citrulline level J:165341
premature death J:165341
tremors J:165341
Ass1bar/Ass1bar
FVB.BAR-Ass1bar 		abnormal Bergmann glial cell morphology J:165341
abnormal cerebellar granule cell migration J:165341
abnormal circulating amino acid level J:165341
abnormal enzyme/coenzyme activity J:165341
abnormal gait J:165341
abnormal hair follicle morphology J:165341
alopecia J:165341
circling J:165341
decreased body length J:165341
decreased brain weight J:165341
epidermal hyperplasia J:165341
hyperkeratosis J:165341
increased circulating ammonia level J:165341
premature death J:165341
tremors J:165341
Ass1bar/Ass1fold
involves: C57BL/6Ei * C57BL/6J * OF1 * P/J 		abnormal cerebellar granule cell migration J:165341
abnormal cerebellar granule layer morphology J:165341
abnormal cerebellum external granule cell layer morphology J:165341
abnormal circulating amino acid level J:165341
abnormal enzyme/coenzyme activity J:165341
abnormal gait J:165341
abnormal hair follicle morphology J:165341
decreased body length J:165341
decreased brain weight J:165341
delayed hair appearance J:165341
epidermal hyperplasia J:165341
hyperkeratosis J:165341
increased circulating ammonia level J:165341
increased circulating citrulline level J:165341
premature death J:165341
sparse hair J:165341
tremors J:165341
Ass1fold/Ass1fold
B6Ei.P-Ass1fold/GrsrJ 		abnormal cerebellar granule cell migration J:165341
abnormal circulating amino acid level J:165341
abnormal enzyme/coenzyme activity J:165341
abnormal gait J:165341
abnormal hair follicle morphology J:165341
decreased body length J:165341
decreased brain weight J:165341
delayed hair appearance J:165341
epidermal hyperplasia J:165341
hyperkeratosis J:165341
increased circulating ammonia level J:165341
increased circulating citrulline level J:165341
oxidative stress J:165341
premature death J:165341
sparse hair J:165341
tremors J:165341
wrinkled skin J:165341
Ass1fold/Ass1fold
involves: C57BL/6JEiJ * P/J 		abnormal hair follicle development J:117339
abnormal hair shaft morphology J:117339
decreased body size J:117339
delayed hair appearance J:117339
normal hearing/vestibular/ear phenotype J:117339
postnatal lethality J:117339
premature death J:117339
sparse hair J:117339
normal vision/eye phenotype J:117339
wrinkled skin J:117339
Ass1tm1.1Ekoe/Ass1tm1.1Ekoe
involves: 129P2/OlaHsd 		no abnormal phenotype detected J:203474
Ass1tm1.1Ekoe/Ass1tm1.1Ekoe
Tg(Vil1-cre)997Gum/0
involves: 129P2/OlaHsd * C57BL/6 * SJL 		abnormal amino acid level J:203474
abnormal circulating amino acid level J:203474
abnormal enterocyte morphology J:203474
decreased circulating arginine level J:203474
decreased circulating ornithine level J:203474
decreased circulating taurine level J:203474
normal growth/size/body region phenotype J:203474
normal immune system phenotype J:203474
increased circulating citrulline level J:203474
increased circulating ornithine level J:203474
increased circulating taurine level J:203474
normal integument phenotype J:203474
Ass1tm1.1Ekoe/Ass1tm1.2Ekoe
involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 		no abnormal phenotype detected J:203474
Ass1tm1.2Ekoe/Ass1tm1.2Ekoe
involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 		neonatal lethality, complete penetrance J:203474
Ass1tm1Bay/Ass1+
involves: 129S7/SvEvBrd * C57BL/6J 		increased circulating citrulline level J:18326
Ass1tm1Bay/Ass1tm1Bay
involves: 129S7/SvEvBrd * C57BL/6J 		abnormal circulating amino acid level J:18326
decreased circulating arginine level J:18326
increased circulating ammonia level J:18326
increased circulating citrulline level J:18326
neonatal lethality, complete penetrance J:18326
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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11/12/2024
MGI 6.24 		The Jackson Laboratory