Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
centrosomal protein 63
Synonyms:
D9Mgc48e,  CD20R,  D9Mgc41,  ET2

IMPC Data Collections

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

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.

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 Cep63 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.

The table below shows human diseases associated to Cep63 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Seckel Syndrome 6
Short stature, Microcephaly OMIM:614728
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Growth delay, Short stature, Pachygyria, Agenesis of corpus call... ORPHA:2512

The table below shows human diseases predicted to be associated to Cep63 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Microcephaly, Azoospermia OMIM:241000
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Ring Chromosome Y Syndrome
Hypospadias, Bifid scrotum, Short stature, Abnormality of the male genitalia, Ambiguous genitalia... ORPHA:261529
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Hypergonadotropic hypogonadism, Azoospermia, Leukoencephalopath... OMIM:613724
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Hyperg... ORPHA:2183
Maternal Uniparental Disomy Of Chromosome X
Short stature, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genita... ORPHA:261519
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity OMIM:615703
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Holoprosencephaly, Short stature, Micro... ORPHA:1445
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l... ORPHA:99330
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Growth delay, Azoospermia OMIM:615234
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... ORPHA:280679
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Hypogonadism, Microcephaly OMIM:618165
Young Syndrome
Azoospermia OMIM:279000
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:300845
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... ORPHA:432
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Bicornuate uterus, Short stature, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Lissencephaly, X-Linked, 1
Pachygyria, Micropenis, Postnatal growth retardation, Agyria, Lissencephaly, Agenesis of corpus c... OMIM:300067
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation, Cerebellar hyp... OMIM:616113
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Bloom Syndrome
Type II diabetes mellitus, Intrauterine growth retardation, Small for gestational age, Azoospermi... OMIM:210900
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short stature, Global brain atrophy, External genital hypoplasia, Postnatal growth retardation, C... OMIM:612947
Ring Chromosome 22 Syndrome
Growth delay, Azoospermia, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly ORPHA:1446
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Cry... ORPHA:10
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
8P11.2 Deletion Syndrome
Growth delay, Short stature, Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypot... ORPHA:251066
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Fanconi Anemia, Complementation Group A
Small for gestational age, Deficient excision of UV-induced pyrimidine dimers in DNA, Short statu... OMIM:227650
Filippi Syndrome
Intrauterine growth retardation, Ambiguous genitalia, Postnatal growth retardation, Cryptorchidis... OMIM:272440
Seckel Syndrome 6
Short stature, Microcephaly OMIM:614728
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Growth delay, Streak ovary, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of th... ORPHA:2232
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Growth delay, Microcephaly OMIM:278780
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Short stature, Azoospermia OMIM:601076
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Fanconi Anemia, Complementation Group E
Small for gestational age, Deficient excision of UV-induced pyrimidine dimers in DNA, Short statu... OMIM:600901
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Short stature, Obesity, Postnatal growth re... ORPHA:254516
Xeroderma Pigmentosum, Complementation Group F
Short stature, Defective DNA repair after ultraviolet radiation damage, Aplasia/Hypoplasia involv... OMIM:278760
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay, Cerebral calcification OMIM:613987
49,Xxxxy Syndrome
Arrhinencephaly, Infertility, Type II diabetes mellitus, Short stature, Azoospermia, Holoprosence... ORPHA:96264
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... ORPHA:361
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Short stature, Ambiguous genitalia, female, Urogenital sinus anomaly,... ORPHA:1772
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Small for gestational age, Deficient excision of UV-induced pyri... OMIM:227645
Fanconi Anemia, Complementation Group D2
Small for gestational age, Annular pancreas, Deficient excision of UV-induced pyrimidine dimers i... OMIM:227646
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Short stature, Abnormal external genitalia, Postnatal growth retardati... ORPHA:231140
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Intrauterine growth retardation, Micropenis, Adrenal hypoplasia, Macrocephaly, Postn... OMIM:614732
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Warburg Micro Syndrome 3
Hypoplastic labia minora, Micropenis, Postnatal growth retardation, Polymicrogyria, Secondary mic... OMIM:614222
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism, Cerebral atrophy OMIM:160900
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Growth delay, Azoospermia, Abnormality of the hypothalamus-pituitary axis,... ORPHA:300298
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Obesity, Crypto... ORPHA:96263
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Microcephaly, Severe... OMIM:278800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... ORPHA:73272
H Syndrome
Amenorrhea, Azoospermia, Short stature, Hypogonadism, Micropenis, Hydrocephalus, Diabetes mellitu... ORPHA:168569
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Growth delay, Small for gestational age, Failure to thrive, Postnatal growth retarda... OMIM:614541
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Baraitser-Winter Syndrome 1
Short stature, Failure to thrive, Patent ductus arteriosus, Pachygyria, Micropenis, Postnatal gro... OMIM:243310
Bloom Syndrome
Oligospermia, Intrauterine growth retardation, Growth delay, Small for gestational age, Azoosperm... ORPHA:125
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Failure to thrive in infancy, Cachexia, Intrauterine gro... ORPHA:813
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Growth delay, Diabetes mellitus, Hypothyroidism, Cerebral... OMIM:222300
Fanconi Anemia
Hypospadias, Intrauterine growth retardation, Growth delay, Short stature, Azoospermia, Weight lo... ORPHA:84
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short stature, Failu... OMIM:305400
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Dysmenorrhea, Bifid scrotum, Small for gestational age, Intrauterine growth retardat... ORPHA:397590
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... ORPHA:79239
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Short stature, Azoospermia, Patent ductus arteriosus, Micropenis, Type I d... OMIM:602782
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Microphthalmia, Syndromic 3
Hypospadias, Short stature, Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Optic nerve hy... OMIM:206900
Warburg Micro Syndrome 2
Hypoplastic labia majora, Global brain atrophy, Micropenis, Postnatal growth retardation, Polymic... OMIM:614225
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Ambiguous genitalia, femal... ORPHA:91
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... ORPHA:465508
Trichothiodystrophy
Partial agenesis of the corpus callosum, Intrauterine growth retardation, Microcephaly, Defective... ORPHA:33364
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Severe intrauterine growth retardation, Congenital hypoparathyroidism, Micropenis, Postnatal grow... OMIM:241410
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Postnatal growth retardation, Cervical spina bifida, Obesity, Male pseudohermaphrod... OMIM:600122
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Growth delay,... ORPHA:54595
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Intrauterine growth retardation, Chordee, Spontaneous abortion, Bilateral cryptorchi... ORPHA:96179
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Dandy-Walker malformation, Bifid scrotum, Intrauterine growth retardation, Small for... OMIM:257300
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... ORPHA:85450
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Small scrotum, Postnatal growth retardation, Cryptorchidism, Mic... ORPHA:2728
Woodhouse-Sakati Syndrome
Growth delay, Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube... ORPHA:3464
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Growth delay, Azoospermia, Cholelithiasis, Hydrocephalus, Hypoplasia of the corpus call... ORPHA:2072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Megalencephaly, Short stature, ... ORPHA:3063
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Decreased circulating aldosterone level, Adrenal hyperplasia, Infertility, Oligomen... ORPHA:786
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Short stature, Azoospermia, Failure to thrive, Hyperparathyroidism, Abnormal ... ORPHA:534
Cystinosis, Nephropathic
Failure to thrive in infancy, Growth delay, Short stature, Cerebral calcification, Primary hypoth... OMIM:219800
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Ataxia-Telangiectasia
Short stature, Hypoplasia of the thymus, Abnormal spermatogenesis, Diabetes mellitus, Female hypo... OMIM:208900
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Intrauterine growth retardation, Growth delay, Short stature, Post... ORPHA:93325
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278730
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent outer dynein arms, Male infertility OMIM:244400
Diphallia
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... ORPHA:227
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Hydrocephalus, Abnormal sperm motility ORPHA:244
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Growth delay, Short stature, Pachygyria, Agenesis of corpus call... ORPHA:2512
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Noonan Syndrome 1
Hypospadias, Failure to thrive in infancy, Short stature, Patent ductus arteriosus, Hypogonadism,... OMIM:163950
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Cystic Fibrosis
Failure to thrive, Exocrine pancreatic insufficiency, Male infertility, Pancreatitis 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 Cep63

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 Cep63.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cep63 and cep152 cooperate to ensure centriole duplication. PloS one (July 2013) Cep63tm2a(EUCOMM)Wtsi PMC3728344

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cep63tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cep63tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cep63tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter