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Gene: Cpeb1 MGI:108442

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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:
cytoplasmic polyadenylation element binding protein 1
Synonyms:
N/A

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 Cpeb1 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 Cpeb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
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 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... ORPHA:2232
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
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
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating... OMIM:619665
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... ORPHA:168563
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating antimullerian ho... OMIM:619203
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Secondary amenorrhea, Hypogonadotropic hypogonadism ORPHA:1643
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Decrea... ORPHA:243
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Leopard Syndrome 1
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... OMIM:151100
Young Syndrome
Azoospermia OMIM:279000
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... OMIM:300200
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Limb-Mammary Syndrome
Primary amenorrhea, Hypoplastic nipples, Breast aplasia, Aplasia of the ovary, Absent nipple, Bil... ORPHA:69085
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... OMIM:194072
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Gonadoblastoma
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:206484
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... ORPHA:1916
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... ORPHA:2235
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... ORPHA:3130
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... ORPHA:8
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:613546
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Polycystic Ovary Syndrome 1
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea OMIM:184700
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Abnormal circulating hormone c... ORPHA:280356
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia, Male infertility OMIM:277180
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism OMIM:602390
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... OMIM:614897
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d... ORPHA:91
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... ORPHA:314478
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Ne... ORPHA:91351
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea ORPHA:2795
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... ORPHA:3085
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Hypothyroidism OMIM:617577
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:110
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... ORPHA:786
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Female inferti... OMIM:110100
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... OMIM:400045
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... ORPHA:3464
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Secondary amenorrhea, Insulin-resistant diabetes mellitus, Hypergonadotropic ... OMIM:268020
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Mitochondrial hypertrophy OMIM:619518
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia, Patent ductus arteriosus OMIM:618300
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus, Oligospermia,... OMIM:602668
Lead Poisoning
Abnormal sperm morphology, Delayed puberty, Decreased male libido, Decreased circulating osteocal... ORPHA:330015
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Hypoplasia of t... ORPHA:247768
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... ORPHA:280679
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... ORPHA:572333
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased circulating androstenedione concentration, Increased ser... ORPHA:90795
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:91349
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:79085
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia ORPHA:85450
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Polycystic ovaries, Hyperinsulinemia, Type... OMIM:604367
Prolactinoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:2965
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Abnormal calcium-phosphate regulating ... ORPHA:457059
Gapo Syndrome
Dysmenorrhea, Oligospermia, Amenorrhea, Hypogonadism ORPHA:2067
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, Fused l... ORPHA:95699
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Abnormal labia majora morphology, Dec... ORPHA:435660
Congenital Generalized Lipodystrophy
Oligomenorrhea, Diabetes mellitus, Polycystic ovaries, Clitoral hypertrophy, Precocious puberty i... ORPHA:528
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:435651
Pmm2-Cdg
Elevated circulating growth hormone concentration, Decreased testicular size, Increased circulati... ORPHA:79318
Carney Complex
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... ORPHA:1359
Bangstad Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Increased circulating cortisol level, P... ORPHA:1227
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr... ORPHA:465508
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Clitoral hypoplasia, Oligospermia, Breast hypoplasia OMIM:614813
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Micropenis, Clitoral hypertrophy, Urogenital sinus anomaly, Streak ovary, Uterus ... OMIM:618820
Mccune-Albright Syndrome
Goiter, Elevated circulating growth hormone concentration, Abnormal endocrine physiology, Increas... ORPHA:562
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... OMIM:305400
Primary Lipodystrophy
Polycystic ovaries, Menometrorrhagia, Type II diabetes mellitus ORPHA:90970
Bloom Syndrome
Premature ovarian insufficiency, Diabetes mellitus, Azoospermia, Male infertility, Oligospermia ORPHA:125
Cowden Syndrome 6
Goiter, Hyperthyroidism, Varicocele, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroid... OMIM:615109
Donohue Syndrome
Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Hyperinsulinemia, Ovarian cyst, Long pen... OMIM:246200
Familial Adenomatous Polyposis 4
Ovarian cyst, Thyroid adenoma, Uterine leiomyoma OMIM:617100
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Primary hypercortisolism, Decreased circulating ACTH level,... OMIM:610475
Cowden Syndrome 5
Goiter, Hyperthyroidism, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Thyroid... OMIM:615108
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Micropenis OMIM:619321
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Increased circulating gonadotropin level, Enlar... ORPHA:64739
Cowden Syndrome 1
Goiter, Hypothyroidism, Hyperthyroidism, Ovarian carcinoma, Varicocele, Ovarian cyst, Thyroid ade... OMIM:158350
Bardet-Biedl Syndrome 1
Decreased testicular size, Micropenis, Hypogonadism, Abnormality of the ovary, Diabetes mellitus,... OMIM:209900
Alg9-Cdg
Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99226
Tetrasomy 9P
Cryptorchidism, Micropenis, Infertility, Absent gallbladder, Oligospermia ORPHA:3310
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Ambiguous genitalia, Primary amenorrh... OMIM:201750
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Schinzel-Giedion Syndrome
Micropenis, Central hypothyroidism, Streak ovary, Annular pancreas, Hypospadias ORPHA:798
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Alström Syndrome
Decreased testicular size, Micropenis, Polycystic ovaries, Precocious puberty in females, Testicu... ORPHA:64

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 Cpeb1

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 Cpeb1.

No publications found that use IMPC mice or data for Cpeb1.

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.

MGI Allele Allele Type Produced
Cpeb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cpeb1tm42943(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpeb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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