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Gene: Pabpn1l MGI:2685954

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Gene Summary

Name:
poly(A)binding protein nuclear 1-like
Synonyms:
LOC382035,  ePABP2

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Pabpn1ltm1a(EUCOMM)Wtsi HOM Early adult 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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Legacy Phenotype Associated Images
Pabpn1ltm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pabpn1ltm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pabpn1ltm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pabpn1ltm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Pabpn1ltm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 70 images

Pabpn1ltm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Pabpn1ltm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Pabpn1ltm1a(EUCOMM)Wtsi
polydactyly, HOM, Female, WTSI
Pabpn1ltm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

Human diseases caused by Pabpn1l 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 Pabpn1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
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 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 17
Male infertility OMIM:617214
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... OMIM:110100
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... 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 Pabpn1l

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 Pabpn1l.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PABPN1L assemble into "ring-like" aggregates in the cytoplasm of MII oocytes and is associated with female infertility†. Biology of reproduction (January 2022) Pabpn1ltm1a(EUCOMM)Wtsi 34726234
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pabpn1ltm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pabpn1ltm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pabpn1ltm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pabpn1ltm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Pabpn1ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pabpn1ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pabpn1ltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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