Gene Summary

Name:
serine palmitoyltransferase, long chain base subunit 1
Synonyms:
Spt1,  Lcb1

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
abnormal embryo size Sptlc1em1(IMPC)Bay HET E9.5 0.00
embryonic growth retardation Sptlc1em1(IMPC)Bay HET E9.5 0.00
preweaning lethality, complete penetrance Sptlc1em1(IMPC)Bay HOM   Early adult 0.00
increased cornea thickness Sptlc1em1(IMPC)Bay HET Early adult 2.14×10-14
abnormal eye anterior chamber depth Sptlc1em1(IMPC)Bay HET Early adult 5.76×10-14

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 Whole Body Lateral Orientation

11 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Forepaw

11 Images

Human diseases caused by Sptlc1 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 Sptlc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract OMIM:162400
Juvenile Amyotrophic Lateral Sclerosis
ORPHA:300605
Hereditary Sensory And Autonomic Neuropathy Type 1
ORPHA:36386

The table below shows human diseases predicted to be associated to Sptlc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Cataract 47
Microcornea, Cataract OMIM:612018
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Decreased corneal thickness, Corneal erosion ORPHA:90354
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Alagille Syndrome
Abnormal pupil morphology, Keratoconus, Corneal dystrophy ORPHA:52
Warburg-Cinotti Syndrome
Corneal neovascularization, Symblepharon, Decreased corneal thickness, Limbal stem cell deficiency OMIM:618175
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca... ORPHA:2363
Costello Syndrome
Keratoconus ORPHA:3071
Gapo Syndrome
Keratoconus ORPHA:2067
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Gapo Syndrome
Keratoconus OMIM:230740
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea OMIM:225400
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus ORPHA:286
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract OMIM:162400
Juvenile Amyotrophic Lateral Sclerosis
ORPHA:300605
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 Sptlc1

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 Sptlc1.

No publications found that use IMPC mice or data for Sptlc1.

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MGI Allele Allele Type Produced
Sptlc1tm380302(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sptlc1em1(IMPC)Bay Exon Deletion Mice

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