Gene Summary

Name:
splicing factor SWAP
Synonyms:
Sfrs8,  1190005N23Rik,  6330437E22Rik

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
increased circulating alanine transaminase level Sfswapem1(IMPC)J HET Early adult 4.45×10-08
decreased grip strength Sfswapem1(IMPC)J HET Early adult 8.09×10-05
preweaning lethality, complete penetrance Sfswapem1(IMPC)J HOM   Early adult 0.00
embryonic lethality prior to organogenesis Sfswapem1(IMPC)J HOM   E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Human diseases caused by Sfswap 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 Sfswap by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Hearing impairment ORPHA:207
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Distal Deletion 10Q
Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Low-set ears,... ORPHA:96148
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Synotia ORPHA:990
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... ORPHA:251061
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Abnormal an... ORPHA:794
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... ORPHA:1435
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Stenosis of the external auditory ca... ORPHA:233
Schinzel-Giedion Syndrome
Abnormality of the stapes, Abnormal cochlea morphology, Large earlobe, Abnormal helix morphology,... ORPHA:798
Tick-Borne Encephalitis
Vertigo, Tinnitus, Abnormality of the vestibular nerve, Hearing impairment ORPHA:297
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Narrow internal auditory ... ORPHA:861
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Norrie Disease
Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Abnormal helix mor... ORPHA:649
Floating-Harbor Syndrome
Conductive hearing impairment, Cochlear malformation, Low-set ears ORPHA:2044
Proteus Syndrome
Macrotia, Low-set ears, Narrow internal auditory canal ORPHA:744

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 Sfswap

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 Sfswap.

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

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MGI Allele Allele Type Produced
Sfswaptm363458(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sfswapem1(IMPC)J Exon Deletion Mice

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