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Gene: Nans MGI:2149820

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Gene Summary

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

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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 tooth bud stage Nansem1(IMPC)Tcp HOM   E12.5 0.00
abnormal eye morphology Nansem1(IMPC)Tcp HET Early adult 0.00
decreased lean body mass Nansem1(IMPC)Tcp HET Early adult 4.25×10-07
cataract Nansem1(IMPC)Tcp HET   Early adult 5.51×10-05
prenatal lethality prior to heart atrial septation Nansem1(IMPC)Tcp HOM   E15.5 0.00
increased total body fat amount Nansem1(IMPC)Tcp HET Early adult 1.10×10-05
preweaning lethality, complete penetrance Nansem1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology Nansem1(IMPC)Tcp HET 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.

Eye Morphology

Images Ophthalmoscopy

103 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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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
Cataract 29
Cataract OMIM:115800
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Galactosemia Iv
Cataract OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Stiff Skin Syndrome
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Lipodystrophy, Cataract OMIM:184900
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Cataract 47
Cataract, Microcornea OMIM:612018
Congenital Varicella Syndrome
Atypical scarring of skin, Cataract ORPHA:291
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Aniridia-Absent Patella Syndrome
Inguinal hernia, Cataract, Aniridia ORPHA:1069
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
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.

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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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