Gene Summary

Name:
N-acetylneuraminic acid synthase (sialic acid synthase)
Synonyms:
4632418E04Rik,  N-acetylneuraminic acid phosphate synthase,  Sas

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
prenatal lethality prior to heart atrial septation Nansem1(IMPC)Tcp HOM   E15.5 0.00
embryonic lethality prior to tooth bud stage Nansem1(IMPC)Tcp HOM   E12.5 0.00
preweaning lethality, complete penetrance Nansem1(IMPC)Tcp HOM   Early adult 0.00
decreased lean body mass Nansem1(IMPC)Tcp HET Early adult 4.25×10-07
abnormal eye morphology Nansem1(IMPC)Tcp HET Early adult 0.00
abnormal skin morphology Nansem1(IMPC)Tcp HET Early adult 0.00
increased total body fat amount Nansem1(IMPC)Tcp HET Early adult 6.55×10-06

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.

Eye Morphology

Images Ophthalmoscopy

103 Images

Eye Morphology

Images Slit Lamp

96 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Gross Morphology Embryo E9.5

Images

2 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Nans 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 Nans by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepimetaphyseal Dysplasia, Genevieve Type
OMIM:610442

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepimetaphyseal Dysplasia, Genevieve Type
OMIM:610442

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 Nans

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 Nans.

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

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
Nansem1(IMPC)Tcp Exon Deletion Mice
Nanstm387(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nanstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nanstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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