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, Primary microcephaly OMIM:614728
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Short stature, Growth delay, Microcephaly, Pachygyria, Agenesis ... ORPHA:2512

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia, Microcephaly OMIM:241000
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
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 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
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
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Ring Chromosome Y Syndrome
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Abnormality o... ORPHA:2183
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:261519
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity OMIM:615703
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormal motor neuron morphology, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Ring Chromosome 21 Syndrome
Diabetes insipidus, Short stature, Infertility, Azoospermia, Holoprosencephaly, Microcephaly, Ame... ORPHA:1445
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Hydrocephalus, Azoospermia, Macrocephaly, Oli... ORPHA:8
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Ischemic stroke, Short stature, Decreased ... ORPHA:280679
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus ORPHA:2578
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth reta... OMIM:616113
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Pachygyria, Micropenis, Agenesis of corpus callosum, Postnatal growth reta... OMIM:300067
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... OMIM:300845
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
48,Xxyy Syndrome
Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hypoplasia of pen... ORPHA:10
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Ring Chromosome 22 Syndrome
Azoospermia, Growth delay, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:1446
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
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
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Defective DNA repair after ultraviolet radiation damage, Growth delay,... OMIM:278780
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus OMIM:601076
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Growth delay, Hypogonadism OMIM:615234
Fanconi Anemia, Complementation Group A
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Male infertility, Hyp... OMIM:227650
49,Xxxxy Syndrome
Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mellitus, Infertility, A... ORPHA:96264
8P11.2 Deletion Syndrome
Patent ductus arteriosus, Hypogonadism, Short stature, Azoospermia, Hypoplasia of penis, Growth d... ORPHA:251066
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Fanconi Anemia, Complementation Group E
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Hypergonadotropic hyp... OMIM:600901
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... ORPHA:254516
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
48,Xxxy Syndrome
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... ORPHA:96263
Seckel Syndrome 6
Short stature, Primary microcephaly OMIM:614728
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Short stature, Small for gestational age, Hydrocephalus, Prolonged G2 p... OMIM:227646
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Fanconi Anemia, Complementation Group C
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Hypergonadotropic hyp... OMIM:227645
Bloom Syndrome
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... OMIM:210900
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Growth delay, Abnormality of th... ORPHA:300298
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
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Silver-Russell Syndrome 3
Patent ductus arteriosus, Ambiguous genitalia, Decreased body weight, Short stature, Small for ge... OMIM:616489
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... ORPHA:754
Bone Marrow Failure Syndrome 5
Short stature, Hypogonadism, Testicular atrophy, Growth delay, Microcephaly OMIM:618165
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
H Syndrome
Hypogonadism, Short stature, Decreased testicular size, Hydrocephalus, Azoospermia, Diabetes mell... ORPHA:168569
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Short stature, Aplasia/Hypoplasia involving the central nervous system, Mi... OMIM:278760
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Macrocephaly, Intrauterine growth retardat... OMIM:614732
De Sanctis-Cacchione Syndrome
Global brain atrophy, Bilateral cryptorchidism, Severe short stature, Microcephaly, Basal ganglia... OMIM:278800
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Myotonic Dystrophy 1
Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Bloom Syndrome
Decreased head circumference, Premature ovarian insufficiency, Small for gestational age, Azoospe... ORPHA:125
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Small for gestational ag... ORPHA:397590
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Fanconi Anemia
Patent ductus arteriosus, Abnormal preputium morphology, Hypogonadism, Abnormal testis morphology... ORPHA:84
Aarskog-Scott Syndrome
Short stature, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentratio... OMIM:305400
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Failure to thrive, Severe short stature, Microcephaly,... OMIM:610965
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... ORPHA:79239
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell... ORPHA:465508
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Dyskeratosis Congenita, Autosomal Recessive 2
Cerebral calcification, Testicular atrophy, Growth delay OMIM:613987
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Patent ductus arteriosus, Decreased response to growth hormone stimulation... OMIM:602782
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Growth delay, Cerebral... OMIM:222300
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Trichothiodystrophy
Cerebral cortical atrophy, Periventricular leukomalacia, Cerebral dysmyelination, Partial agenesi... ORPHA:33364
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Weight loss, Oligospermia, ... ORPHA:85450
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556037
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Azoospermia, Hydrocephalus, Delayed puberty, Growth delay, Hypoplasia of the corpus cal... ORPHA:2072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Anterior pituitary hypoplasia, Short stature, Optic nerve hypoplasia, H... OMIM:206900
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Hyperaldosteronism, Short stature, Azoospermia, Failure to thrive, Hyperparat... ORPHA:534
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Ataxia-Telangiectasia
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, Short stature, Failure t... OMIM:208900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Short stature, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, ... ORPHA:3063
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Communicating hydrocephalus OMIM:244400
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility, Hydrocephalus ORPHA:244
Diphallia
Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... ORPHA:227
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Short stature, Growth delay, Microcephaly, Pachygyria, Agenesis ... ORPHA:2512
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278700
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Cerebral cortical atrophy, Decreased response to growth ho... ORPHA:273
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278730
Cystinosis, Nephropathic
Hypohidrosis, Weight loss, Short stature, Cerebral calcification, Male hypogonadism, Diabetes mel... OMIM:219800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Noonan Syndrome 1
Patent ductus arteriosus, Hypogonadism, Short stature, Hypospadias, Male infertility, Cryptorchid... 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
Exocrine pancreatic insufficiency, Failure to thrive, 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

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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

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