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Gene: Ercc6l MGI:2654144

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
excision repair cross-complementing rodent repair deficiency complementation group 6 like
Synonyms:
D330021P09Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Ercc6l 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 Ercc6l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
N Syndrome
Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:609054
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Immunodeficiency 54
Intrauterine growth retardation, Chromosome breakage OMIM:609981
Fanconi Anemia, Complementation Group O
Chromosome breakage, Neonatal death OMIM:613390
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:605724
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Abnormality of chromosome stability, Patent ductus arteriosus OMIM:300514
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Decreased fertility in females, Azoospe... OMIM:210900
Icf Syndrome
Abnormality of chromosome stability, Umbilical hernia ORPHA:2268
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Male infertility, Deficient excision of UV-i... OMIM:227650
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:609053
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... OMIM:600901
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Intr... OMIM:227645
Bone Marrow Failure Syndrome 3
Intrauterine growth retardation, Chromosome breakage OMIM:617052
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:620133
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation, Patent duct... OMIM:603467
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Prolonged G2 phase of cell cycle, Deficient ... OMIM:227646
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Chromosome breakage, Chromosomal breakage induced by crosslinkin... OMIM:614083
Cartilage-Hair Hypoplasia
Spinal dysraphism, Abnormality of chromosome stability ORPHA:175
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Fanconi Anemia
Patent ductus arteriosus, Azoospermia, Abnormality of chromosome stability, Spina bifida, Umbilic... ORPHA:84
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Meningioma
Chromosomal breakage induced by ionizing radiation, Amenorrhea, Hypogonadotropic hypogonadism, Im... ORPHA:2495
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99413

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 Ercc6l

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 Ercc6l.

No publications found that use IMPC mice or data for Ercc6l.

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MGI Allele Allele Type Produced
Ercc6ltm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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