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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Sptlc2
serine palmitoyltransferase, long chain base subunit 2
MGI:108074
62 phenotypes from 4 alleles in 5 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Sptlc2em1(IMPC)Bay/Sptlc2em1(IMPC)Bay
C57BL/6N-Sptlc2em1(IMPC)Bay/Bay 		embryonic lethality prior to organogenesis J:211773
preweaning lethality, complete penetrance J:211773
Sptlc2tm1Jia/Sptlc2+
B6.Cg-Sptlc2tm1Jia 		abnormal circulating lipid level J:140627
abnormal lipid level J:140627
Sptlc2tm1Jia/Sptlc2tm1Jia
B6.Cg-Sptlc2tm1Jia 		prenatal lethality, complete penetrance J:140627
Sptlc2tm1Yhir/Sptlc2tm1Yhir
Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
involves: C57BL/6 * C57BL/6NTac 		abnormal circulating protein level J:202954
abnormal intestinal mucosa morphology J:202954
abnormal large intestine crypts of Lieberkuhn morphology J:202954
abnormal pancreatic acinar cell zymogen granule morphology J:202954
abnormal small intestinal villus morphology J:202954
abnormal small intestine crypts of Lieberkuhn morphology J:202954
abnormal spleen morphology J:202954
abnormal stomach mucosa morphology J:202954
abnormal thymus morphology J:202954
cellular necrosis J:202954
decreased bone marrow cell number J:202954
decreased lymphocyte cell number J:202954
decreased spleen weight J:202954
decreased thymus weight J:202954
increased adrenal gland weight J:202954
increased blood urea nitrogen level J:202954
increased circulating alanine transaminase level J:202954
increased circulating serum albumin level J:202954
increased erythrocyte cell number J:202954
increased hematocrit J:202954
increased hemoglobin content J:202954
increased neutrophil cell number J:202954
reticulocytopenia J:202954
sebaceous gland atrophy J:202954
Sptlc2tm1Yhir/Sptlc2tm1Yhir
Tg(KRT5-cre)1Tak/0
involves: C3H * C57BL/6 		abnormal ceramide level J:202388
abnormal dendritic epidermal T cell morphology J:202388
abnormal epidermal lamellar body morphology J:202388
abnormal epidermis stratum corneum morphology J:202388
abnormal epidermis stratum granulosum morphology J:202388
abnormal Langerhans cell morphology J:202388
abnormal Langerhans cell physiology J:202388
absent epidermis stratum granulosum J:202388
acanthosis J:202388
alopecia J:202388
dehydration J:202388
delayed skin barrier formation J:202388
dry skin J:202388
epidermal hyperplasia J:202388
hyperkeratosis J:202388
impaired skin barrier function J:202388
increased dendritic cell number J:202388
increased gamma-delta T cell number J:202388
increased T-helper 17 cell number J:202388
postnatal growth retardation J:202388
premature death J:202388
psoriasis J:202388
reddish skin J:202388
scaly skin J:202388
skin inflammation J:202388
skin lesions J:202388
sparse hair J:202388
Sptlc2tm2.1Jia/Sptlc2tm2.1Jia
involves: 129S4/SvJaeSor * C57BL/6 		abnormal liver physiology J:155507
abnormal sphingomyelin level J:155507
increased cholesterol efflux J:155507
increased circulating cholesterol level J:155507
increased circulating HDL cholesterol level J:155507
increased circulating phospholipid level J:155507
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
10/29/2024
MGI 6.24 		The Jackson Laboratory