Gene Summary

Name:
serine incorporator 3
Synonyms:
DIFF33,  TMS-1,  Tde1,  AIGP1

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 auditory brainstem response Serinc3tm1a(KOMP)Wtsi HOM   Early adult 2.49×10-05
decreased circulating magnesium level Serinc3tm1a(KOMP)Wtsi HOM Early adult 6.58×10-06
decreased bone mineral density Serinc3tm1a(KOMP)Wtsi HOM Early adult 1.65×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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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

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Slit Lamp

2 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Serinc3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Serinc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hearing impairment, Osteoporosis, Osteopenia OMIM:615271
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hearing impairment, Osteoporosis, Osteopenia OMIM:615269
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Sensorineural hearing impairment, Increased bone min... OMIM:241520
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia OMIM:244460
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Refractory Celiac Disease
Hypoproteinemia, Osteoporosis, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
East Syndrome
Sensorineural hearing impairment, Increased circulating renin level, Hypokalemia, Hypomagnesemia ORPHA:199343
Van Buchem Disease
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Hearing impairment,... OMIM:239100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia ORPHA:34527
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autosomal Dominant Hypocalcemia
Optic atrophy, Reduced bone mineral density, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Facial palsy, Absent brainstem auditory responses, Sensorineural heari... OMIM:617519
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Sensorineural hearing impairment, Increased circulating renin level, Hypokalemia, Hypomagnesemia OMIM:612780
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Osteomalacia, Hypophosphatemia OMIM:600740
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hypomagnesemia, Abnormal circulating biopterin conc... ORPHA:1578
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Osteopenia, Hypomagn... OMIM:601678
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Osteomyelitis, Hypomagnesemia, Hypoalbuminemia, Abnorma... ORPHA:37042
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia OMIM:248190
Gitelman Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:263800
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia ORPHA:73224
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Macrotia, Osteopenia, Hypomagnesemi... OMIM:241200
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia OMIM:248250
Gitelman Syndrome
Hypokalemia, Gout, Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Tinnitus ORPHA:358
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Bilateral sensorineural hearing impairm... ORPHA:89938
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Hearing impairment, Hypomagnesemia, Hyperalaninemia, Hypocalcemia ORPHA:699
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Craniosynostosis, Sensorineur... OMIM:201050
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529799
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Arthrogryposis, Distal, Type 2A
Shoulder flexion contracture, Abnormal auditory evoked potentials, Hip contracture, Flexion contr... OMIM:193700
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Macrotia, Arthrogryposis multiplex congenita, Knee flexion contracture, Congenit... OMIM:619503
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Optic atrophy, Absent brainstem auditory responses... ORPHA:90321
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Trisomy 10P
Abnormal auditory evoked potentials, Low voltage EEG, Flexion contracture of thumb, Macrotia, Pos... ORPHA:171929
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Osteoporosis, Abnormality of the pinna, Decre... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol ORPHA:401973

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 Serinc3

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 Serinc3.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SERINC5 Potently Restricts Retrovirus Infection In Vivo. mBio (July 2020) Serinc3tm1a(KOMP)Wtsi PMC7360926
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Serinc3tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Serinc3tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Serinc3tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Serinc3tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Serinc3tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Serinc3tm355714(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Serinc3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Serinc3tm35556(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Serinc3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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