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Gene: Cep131 MGI:107440

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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:
centrosomal protein 131
Synonyms:
AZ1,  Azi1

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 Cep131 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 Cep131 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
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
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
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
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Young Syndrome
Azoospermia OMIM:279000
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... ORPHA:432
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea OMIM:614858
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... OMIM:602668
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
8P11.2 Deletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Cryptorchidism, Hypogo... ORPHA:251066
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Von Hippel-Lindau Syndrome
Pheochromocytoma, Paraganglioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas, Pap... OMIM:193300
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst... ORPHA:228123
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility ORPHA:3310
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Pancreatic islet cell adenoma, Adrenal pheochromocytoma... ORPHA:892
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias OMIM:136140
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... ORPHA:273
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias ORPHA:2044
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Hypospadias, Patent ductus arteriosus, Male infertility OMIM:163950
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... ORPHA:64
Cystinosis, Nephropathic
Male hypogonadism, Primary hypothyroidism, Delayed puberty, Diabetes mellitus, Male infertility OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700

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 Cep131

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 Cep131.

No publications found that use IMPC mice or data for Cep131.

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
Cep131tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cep131tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cep131tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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