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Symbol
Name
ID
Sptlc2
serine palmitoyltransferase, long chain base subunit 2
MGI:108074
Phenotype annotations related to integument
Darker colors indicate more annotations
Human Phenotypes
Anhidrosis
Skin ulcer
Disease(s) Associated with SPTLC2
hereditary sensory and autonomic neuropathy type 1C

Mouse Phenotypes
sebaceous gland atrophy
abnormal dendritic epidermal T cell morphology
impaired skin barrier function
skin inflammation
alopecia
sparse hair
abnormal epidermis stratum corneum morphology
hyperkeratosis
abnormal epidermis stratum granulosum morphology
abnormal epidermal lamellar body morphology
absent epidermis stratum granulosum
acanthosis
epidermal hyperplasia
dry skin
reddish skin
scaly skin
skin lesions
psoriasis
delayed skin barrier formation
Availability Mouse Genotype
Sptlc2tm1Yhir/Sptlc2tm1Yhir
Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+  (conditional)
Sptlc2tm1Yhir/Sptlc2tm1Yhir
Tg(KRT5-cre)1Tak/0  (conditional)

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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory