Gene Summary

Name:
retroelement silencing factor 1
Synonyms:
2810474O19Rik,  GET

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 eye morphology Resf1em1(IMPC)Mbp HOM Early adult 0.00
female infertility Resf1em1(IMPC)Mbp HOM Early adult 0.00
male infertility Resf1em1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Resf1em1(IMPC)Mbp 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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Resf1 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 Resf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... ORPHA:79239
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Oligomenorrhea, Streak ovary, Female infertility, Premature ovarian insuffi... ORPHA:572333
47,Xyy Syndrome
Oligospermia, Male infertility, Azoospermia ORPHA:8
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility ORPHA:90793
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism ORPHA:85450
Turner Syndrome
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99413
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism OMIM:227650
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... ORPHA:251510
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Male infertility, Streak ovary, Azoospermia ORPHA:1772
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700
Noonan Syndrome 1
Hypogonadism, Male infertility OMIM:163950

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 Resf1

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 Resf1.

No publications found that use IMPC mice or data for Resf1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Resf1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Resf1em1(IMPC)Mbp Exon Deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter