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
embryonic lethality prior to organogenesis Sfswapem1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Sfswapem1(IMPC)J HOM   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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

8 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, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, Autosomal Dominant 9
Cochlear degeneration, Tinnitus, Vertigo, Postlingual sensorineural hearing impairment OMIM:601369
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231169
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Underdeveloped tragus,... ORPHA:50815
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Hearing impairment, Abnormality of the mid... ORPHA:107
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Microtia, first degree, Aplasia of the inner ear, Profound sensorineural hearing impairment, Ante... OMIM:610706
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Branchiootorenal Syndrome 1
Conductive hearing impairment, Dilatated internal auditory canal, Incomplete partition of the coc... OMIM:113650
Waardenburg Syndrome, Type 2E
Morphological abnormality of the vestibule of the inner ear, Dilated vestibule of the inner ear, ... OMIM:611584
Crouzon Disease
Conductive hearing impairment, Narrow internal auditory canal, Hearing impairment ORPHA:207
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Distal Monosomy 10Q
Cochlear malformation, Morphological abnormality of the vestibule of the inner ear, Congenital se... ORPHA:96148
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Synotia ORPHA:990
Saethre-Chotzen Syndrome
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Prominent cr... ORPHA:794
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Dilatated internal auditory canal, Stapes ankylosis, Sensorineural... ORPHA:1435
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Bilateral sensorineural hearing impairment, Microtia... ORPHA:2306
Duane Retraction Syndrome
Hearing impairment, Sensorineural hearing impairment, Narrow internal auditory canal, External ea... ORPHA:233
Schinzel-Giedion Syndrome
Large earlobe, Infantile sensorineural hearing impairment, Abnormality of the outer ear, Low-set ... ORPHA:798
Tick-Borne Encephalitis
Tinnitus, Vertigo, Abnormality of the vestibular nerve, Hearing impairment ORPHA:297
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Narrow internal auditory canal, Mic... ORPHA:861
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Norrie Disease
Macrotia, Sensorineural hearing impairment, Protruding ear, Abnormal helix morphology, Abnormal c... ORPHA:649
Floating-Harbor Syndrome
Low-set ears, Cochlear malformation, Conductive hearing impairment ORPHA:2044
Proteus Syndrome
Low-set ears, Macrotia, 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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