Gene Summary

Name:
CUGBP, Elav-like family member 1
Synonyms:
CUG-BP,  Brunol2,  D2Wsu101e,  1600010O03Rik,  CUG-BP1,  Cugbp1

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
preweaning lethality, complete penetrance Celf1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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.

Phenotype associated images not available

Human diseases caused by Celf1 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 Celf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Placental Insufficiency
Maternal hypertension, Proportionate short stature, Preeclampsia, Eclampsia, Small for gestationa... ORPHA:439167
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Oligohydramnios, Bifid scrotum, Hypothy... ORPHA:397590
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe intrauterine growth retardation, Truncal obesity, Small for ... ORPHA:73272
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
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
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype,... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Aromatase Deficiency
Cryptorchidism, Maternal virilization in pregnancy, Eunuchoid habitus, Hypergonadotropic hypogona... ORPHA:91
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Postnatal growth retardation, Umbilical hernia, Small for gestati... ORPHA:254534
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis, Secondary amenorrhea, ... OMIM:228300
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Delayed puber... ORPHA:79239
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism ORPHA:2239
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Cryptorchidism, Short umbilical cord, Stillbirth, Fetal akinesia sequence, Premat... OMIM:208150
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Neu-Laxova Syndrome 1
Polyhydramnios, Cryptorchidism, Spina bifida, Bifid uterus, Short umbilical cord, Stillbirth, Dec... OMIM:256520
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Postnatal growth retardation, Umbilical hernia, Intrauterine grow... ORPHA:254528
Restrictive Dermopathy
Polyhydramnios, Short umbilical cord, Large placenta, Decreased fetal movement, Premature birth, ... ORPHA:1662
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Male in... OMIM:227650
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Small for gestationa... OMIM:222470
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Large placenta, Single umbilical artery, Premature birth, Small ... ORPHA:1708
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility, Ectopic pregnancy ORPHA:244
Bloom Syndrome
Azoospermia, Oligospermia, Growth delay, Small for gestational age, Severe postnatal growth retar... ORPHA:125
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Postnatal growth retardation, Premature birth, Large for gestatio... ORPHA:254519
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Ambiguous genitalia, male, Oligohydramnios, Large plac... OMIM:249000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Cryptorchidism, Growth delay, Spinal dysraphism, Large placenta, Postnatal growth... ORPHA:96334
Restrictive Dermopathy, Lethal
Polyhydramnios, Short umbilical cord, Premature rupture of membranes, Stillbirth, Decreased fetal... OMIM:275210
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Exocrine pancreatic insufficiency, Growth delay, Failure to thri... OMIM:219800
Beckwith-Wiedemann Syndrome
Polyhydramnios, Cryptorchidism, Exocrine pancreatic insufficiency, Gonadoblastoma, Hypothyroidism... ORPHA:116
Cystic Fibrosis
Failure to thrive, Male infertility, Exocrine pancreatic insufficiency, Pancreatitis OMIM:219700
Noonan Syndrome 1
Cryptorchidism, Postnatal growth retardation, Failure to thrive in infancy, Short stature, Hyposp... 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 Celf1

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 Celf1.

No publications found that use IMPC mice or data for Celf1.

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MGI Allele Allele Type Produced
Celf1em1(IMPC)Bay Exon Deletion Mice
Celf1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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