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Gene: Sptlc2 MGI:108074

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Gene Summary

Name:
serine palmitoyltransferase, long chain base subunit 2
Synonyms:
Spt2,  LCB2

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Sptlc2em1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, complete penetrance Sptlc2em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Sptlc2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sptlc2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
OMIM:613640
Hereditary Sensory And Autonomic Neuropathy Type 1
ORPHA:36386

The table below shows human diseases predicted to be associated to Sptlc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
OMIM:613640
Hereditary Sensory And Autonomic Neuropathy Type 1
ORPHA:36386

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sptlc2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sptlc2.

No publications found that use IMPC mice or data for Sptlc2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sptlc2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sptlc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sptlc2em1(IMPC)Bay Exon Deletion Mice

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