Gene Summary

Name:
SWI5 dependent recombination repair 1
Synonyms:
6330577E15Rik

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 turning Sfr1em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo size Sfr1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Sfr1em1(IMPC)Mbp HET E9.5 0.00
abnormal hindbrain development Sfr1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Sfr1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal neural tube closure Sfr1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Sfr1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Sfr1em1(IMPC)Mbp HET E9.5 0.00
abnormal somite shape Sfr1em1(IMPC)Mbp HOM E9.5 0.00
abnormal midbrain development Sfr1em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Sfr1em1(IMPC)Mbp HOM E9.5 0.00
increased circulating aspartate transaminase level Sfr1em1(IMPC)Mbp HET Early adult 9.56×10-06

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.

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Human diseases caused by Sfr1 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 Sfr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Short stature, Intrauterine growt... ORPHA:1908
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Iniencephaly
Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myelomeningocele, Hy... ORPHA:63259
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Short stature OMIM:617660
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Short stature OMIM:603546
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Alobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93925
Lobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93924
Semilobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:220386
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93926
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798

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 Sfr1

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 Sfr1.

No publications found that use IMPC mice or data for Sfr1.

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MGI Allele Allele Type Produced
Sfr1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sfr1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Sfr1tm119361(L1L2_Pgk_P) Targeting vectors

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