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
preweaning lethality, complete penetrance Nansem1(IMPC)Tcp HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Nansem1(IMPC)Tcp HOM   E15.5 0.00
abnormal skin morphology Nansem1(IMPC)Tcp HET Early adult 0.00
decreased lean body mass Nansem1(IMPC)Tcp HET Early adult 2.60×10-07
increased total body fat amount Nansem1(IMPC)Tcp HET Early adult 7.53×10-06
cataract Nansem1(IMPC)Tcp HET   Early adult 4.91×10-05
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

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 Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

103 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

96 Images

Gross Pathology and Tissue Collection

Images

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 29
Cataract OMIM:115800
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
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
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Trichomegaly
Cataract OMIM:190330
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Small for gestational age, Arthrogryposis multiplex congenita OMIM:212540
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Bardet-Biedl Syndrome 18
Cataract, Obesity OMIM:615995
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Galactosemia Iv
Cataract OMIM:618881
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Knee flexion contracture, Failure to thrive, Elbow flexion contracture, Iris coloboma ORPHA:171860
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Galactosemia Ii
Cataract OMIM:230200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Kahrizi Syndrome
Elbow flexion contracture, Cataract, Iris coloboma, Knee flexion contracture OMIM:612713
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract ORPHA:2278
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Cataract, Knee flexion contracture, Camptodactyly OMIM:184900
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Cataract, Umbilical hernia ORPHA:1373
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 47
Microcornea, Cataract OMIM:612018
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Martsolf Syndrome 2
Developmental cataract, Decreased body weight, Cataract, Camptodactyly of finger, Camptodactyly OMIM:619420
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Aniridia 2
Cataract, Aniridia OMIM:617141
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Retinitis Pigmentosa 84
Cataract OMIM:618220
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Aniridia-Absent Patella Syndrome
Inguinal hernia, Cataract, Aniridia ORPHA:1069
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Cataract, Corneal erosion OMIM:614878
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
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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